Canonical Allele Identifier: CA160479216
Gene:

Linked Data

dbSNP Id: rs149908679
gnomAD v2: 7-68612074-A-G
gnomAD v3: 7-69147087-A-G
gnomAD v4: 7-69147087-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69147087A>G , CM000669.2:g.69147087A>G GRCh38
NC_000007.13:g.68612074A>G , CM000669.1:g.68612074A>G GRCh37
NC_000007.12:g.68250010A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-961T>C