Canonical Allele Identifier: CA259369477

Gene:

Linked Data

• dbSNP Id: rs1002928775
• gnomAD v2: 14-36854051-T-A
• gnomAD v3: 14-36384846-T-A
• gnomAD v4: 14-36384846-T-A
• MyVariant Identifiers: chr14:g.36854051T>A (hg19) ; chr14:g.36384846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36384846T>A , CM000676.2:g.36384846T>A	GRCh38
NC_000014.8:g.36854051T>A , CM000676.1:g.36854051T>A	GRCh37
NC_000014.7:g.35923802T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011537428.1:c.319-12313T>A	XP_011535730.1:n.319-12313T>A
XR_943756.1:n.358+23750T>A