Canonical Allele Identifier: CA615972747

Gene:

Linked Data

• dbSNP Id: rs1301675589
• gnomAD v2: 14-92781092-G-A
• gnomAD v3: 14-92314748-G-A
• gnomAD v4: 14-92314748-G-A
• MyVariant Identifiers: chr14:g.92781092G>A (hg19) ; chr14:g.92314748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92314748G>A , CM000676.2:g.92314748G>A	GRCh38
NC_000014.8:g.92781092G>A , CM000676.1:g.92781092G>A	GRCh37
NC_000014.7:g.91850845G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944153.1:n.132-498G>A