HgvsListItem

Trial Use

This data class is at a trial use maturity level and may change in future releases. Maturity levels are described in the GKS Maturity Model.

A complex structure for sharing individual HGVS entries associated with Clinvar Variations including nucleotide expressions, protein expressions, molecular consequence and mane select/plus settings for the specific aligned and projected forms of the clinvar variant.

JSON Schema: HgvsListItem

Information Model

Field	Type	Limits	Description
nucleotideExpression	Expression	0..1	The nucleotide HGVS expression with syntax (e.g.,hgvs.c, hgvs.g) and value (the HGVS string).
nucleotideType	string	0..1	The type of nucleotide expression as reported by ClinVar (e.g., coding, genomic, genomic, top-level).
maneSelect	boolean	0..1	true if this transcript is designated as MANE Select. Absent or false when not applicable.
manePlus	boolean	0..1	true if this transcript is designated as MANE Plus Clinical. Absent or false when not applicable.
proteinExpression	Expression	0..1	The protein HGVS expression with syntax (typically hgvs.p) and value. Present only when a protein-level expression exists for the nucleotide expression.
molecularConsequence	Coding[] (unordered)	0..m	Sequence Ontology terms describing the predicted molecular consequence. Each entry includes code (SO identifier), system, name (SO term label), and iris (identifiers.org link).