Canonical Allele Identifier: CA669472821
Gene:

Linked Data

dbSNP Id: rs1394038450
gnomAD v3: 10-8697440-C-A
gnomAD v4: 10-8697440-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697440C>A , CM000672.2:g.8697440C>A GRCh38
NC_000010.10:g.8739403C>A , CM000672.1:g.8739403C>A GRCh37
NC_000010.9:g.8779409C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27639G>T