Canonical Allele Identifier: CA287548554
Gene:

Linked Data

dbSNP Id: rs909988706
gnomAD v3: 17-8137486-G-T
gnomAD v4: 17-8137486-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137486G>T , CM000679.2:g.8137486G>T GRCh38
NC_000017.10:g.8040804G>T , CM000679.1:g.8040804G>T GRCh37
NC_000017.9:g.7981529G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1363G>T
XR_934203.1:n.70-1991G>T
XR_934202.2:n.414-1363G>T