Canonical Allele Identifier: CA154393464
Gene:

Linked Data

dbSNP Id: rs889161098
gnomAD v3: 7-13400556-T-A
gnomAD v4: 7-13400556-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400556T>A , CM000669.2:g.13400556T>A GRCh38
NC_000007.13:g.13440181T>A , CM000669.1:g.13440181T>A GRCh37
NC_000007.12:g.13406706T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745097.1:n.147+90233T>A