Canonical Allele Identifier: CA841571701
Gene:

Linked Data

dbSNP Id: rs1294834725
gnomAD v3: 7-69146952-A-G
gnomAD v4: 7-69146952-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69146952A>G , CM000669.2:g.69146952A>G GRCh38
NC_000007.13:g.68611939A>G , CM000669.1:g.68611939A>G GRCh37
NC_000007.12:g.68249875A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927647.1:n.88-826T>C