Canonical Allele Identifier: CA202788803
Gene:

Linked Data

dbSNP Id: rs11255842
gnomAD v2: 10-8739664-G-A
gnomAD v3: 10-8697701-G-A
gnomAD v4: 10-8697701-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697701G>A , CM000672.2:g.8697701G>A GRCh38
NC_000010.10:g.8739664G>A , CM000672.1:g.8739664G>A GRCh37
NC_000010.9:g.8779670G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27900C>T