Canonical Allele Identifier: CA1081440077

Gene:

Linked Data

• dbSNP Id: rs1003713511
• gnomAD v3: 5-129387068-G-A
• gnomAD v4: 5-129387068-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129387068G>A , CM000667.2:g.129387068G>A	GRCh38
NC_000005.9:g.128722761G>A , CM000667.1:g.128722761G>A	GRCh37
NC_000005.8:g.128750660G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_427770.2:n.163-1380G>A
XR_948774.1:n.235-5583G>A
XR_001742463.1:n.4089-1380G>A
XR_001742464.1:n.2019-5583G>A
XR_001742465.1:n.401-1380G>A
XR_427770.3:n.337-1380G>A