Canonical Allele Identifier: CA583207373
Gene:

Linked Data

dbSNP Id: rs9298326
gnomAD v2: 8-80103395-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79191160G>T , CM000670.2:g.79191160G>T GRCh38
NC_000008.10:g.80103395G>T , CM000670.1:g.80103395G>T GRCh37
NC_000008.9:g.80265950G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745720.1:n.105+789G>T