Canonical Allele Identifier: CA202788801
Gene:

Linked Data

dbSNP Id: rs187942466
gnomAD v2: 10-8739662-T-C
gnomAD v3: 10-8697699-T-C
gnomAD v4: 10-8697699-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697699T>C , CM000672.2:g.8697699T>C GRCh38
NC_000010.10:g.8739662T>C , CM000672.1:g.8739662T>C GRCh37
NC_000010.9:g.8779668T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27898A>G