Canonical Allele Identifier: CA591716271
Gene:

Linked Data

dbSNP Id: rs1445705279
gnomAD v2: 10-8739446-A-G
gnomAD v3: 10-8697483-A-G
gnomAD v4: 10-8697483-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697483A>G , CM000672.2:g.8697483A>G GRCh38
NC_000010.10:g.8739446A>G , CM000672.1:g.8739446A>G GRCh37
NC_000010.9:g.8779452A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27682T>C