Canonical Allele Identifier: CA259369472

Gene:

Linked Data

• dbSNP Id: rs566484866
• gnomAD v2: 14-36853987-C-T
• gnomAD v3: 14-36384782-C-T
• gnomAD v4: 14-36384782-C-T
• MyVariant Identifiers: chr14:g.36853987C>T (hg19) ; chr14:g.36384782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36384782C>T , CM000676.2:g.36384782C>T	GRCh38
NC_000014.8:g.36853987C>T , CM000676.1:g.36853987C>T	GRCh37
NC_000014.7:g.35923738C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011537428.1:c.319-12377C>T	XP_011535730.1:n.319-12377C>T
XR_943756.1:n.358+23686C>T