Canonical Allele Identifier: CA951207932

Gene:

Linked Data

• dbSNP Id: rs1881754261
• gnomAD v3: 12-102501387-G-A
• gnomAD v4: 12-102501387-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501387G>A , CM000674.2:g.102501387G>A	GRCh38
NC_000012.11:g.102895165G>A , CM000674.1:g.102895165G>A	GRCh37
NC_000012.10:g.101419295G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17499G>A