Canonical Allele Identifier: CA154393457
Gene:

Linked Data

dbSNP Id: rs983667981
gnomAD v2: 7-13440148-G-A
gnomAD v3: 7-13400523-G-A
gnomAD v4: 7-13400523-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400523G>A , CM000669.2:g.13400523G>A GRCh38
NC_000007.13:g.13440148G>A , CM000669.1:g.13440148G>A GRCh37
NC_000007.12:g.13406673G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745097.1:n.147+90200G>A