Canonical Allele Identifier: CA154393472
Gene:

Linked Data

dbSNP Id: rs960264921
gnomAD v3: 7-13400596-T-G
gnomAD v4: 7-13400596-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400596T>G , CM000669.2:g.13400596T>G GRCh38
NC_000007.13:g.13440221T>G , CM000669.1:g.13440221T>G GRCh37
NC_000007.12:g.13406746T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90273T>G