Canonical Allele Identifier: CA154393465
Gene:

Linked Data

dbSNP Id: rs905640874
gnomAD v2: 7-13440193-A-G
gnomAD v3: 7-13400568-A-G
gnomAD v4: 7-13400568-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400568A>G , CM000669.2:g.13400568A>G GRCh38
NC_000007.13:g.13440193A>G , CM000669.1:g.13440193A>G GRCh37
NC_000007.12:g.13406718A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90245A>G