Canonical Allele Identifier: CA13031787
Gene:

Linked Data

dbSNP Id: rs10125737
gnomAD v2: 9-81083897-G-A
gnomAD v3: 9-78468981-G-A
gnomAD v4: 9-78468981-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78468981G>A , CM000671.2:g.78468981G>A GRCh38
NC_000009.11:g.81083897G>A , CM000671.1:g.81083897G>A GRCh37
NC_000009.10:g.80273717G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746759.1:n.3871G>A