Canonical Allele Identifier: CA202788758
Gene:

Linked Data

dbSNP Id: rs931938155
gnomAD v2: 10-8739343-T-A
gnomAD v3: 10-8697380-T-A
gnomAD v4: 10-8697380-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697380T>A , CM000672.2:g.8697380T>A GRCh38
NC_000010.10:g.8739343T>A , CM000672.1:g.8739343T>A GRCh37
NC_000010.9:g.8779349T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27579A>T