Canonical Allele Identifier: CA534498814
Gene:

Linked Data

dbSNP Id: rs1335707363
gnomAD v2: 2-88315461-C-T
gnomAD v3: 2-88015942-C-T
gnomAD v4: 2-88015942-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88015942C>T , CM000664.2:g.88015942C>T GRCh38
NC_000002.11:g.88315461C>T , CM000664.1:g.88315461C>T GRCh37
NC_000002.10:g.88096576C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.287C>T
XR_940336.3:n.287C>T