Canonical Allele Identifier: CA163625051
Gene:

Linked Data

dbSNP Id: rs191455899
gnomAD v2: 7-97017888-C-A
gnomAD v3: 7-97388576-C-A
gnomAD v4: 7-97388576-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388576C>A , CM000669.2:g.97388576C>A GRCh38
NC_000007.13:g.97017888C>A , CM000669.1:g.97017888C>A GRCh37
NC_000007.12:g.96855824C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745293.1:n.127-59929G>T