Canonical Allele Identifier: CA154393451
Gene:

Linked Data

dbSNP Id: rs777729085
gnomAD v2: 7-13440110-G-A
gnomAD v3: 7-13400485-G-A
gnomAD v4: 7-13400485-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400485G>A , CM000669.2:g.13400485G>A GRCh38
NC_000007.13:g.13440110G>A , CM000669.1:g.13440110G>A GRCh37
NC_000007.12:g.13406635G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90162G>A