Canonical Allele Identifier: CA833583352
Gene:

Linked Data

dbSNP Id: rs1424064912
gnomAD v3: 7-13400539-A-G
gnomAD v4: 7-13400539-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400539A>G , CM000669.2:g.13400539A>G GRCh38
NC_000007.13:g.13440164A>G , CM000669.1:g.13440164A>G GRCh37
NC_000007.12:g.13406689A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90216A>G