Canonical Allele Identifier: CA1118963435

Gene:

Linked Data

• dbSNP Id: rs1438104613
• gnomAD v3: 8-127012593-G-A
• gnomAD v4: 8-127012593-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012593G>A , CM000670.2:g.127012593G>A	GRCh38
NC_000008.10:g.128024838G>A , CM000670.1:g.128024838G>A	GRCh37
NC_000008.9:g.128094020G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5975G>A