Canonical Allele Identifier: CA51878380
Gene:

Linked Data

dbSNP Id: rs541338960
gnomAD v2: 2-88315904-T-C
gnomAD v3: 2-88016385-T-C
gnomAD v4: 2-88016385-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016385T>C , CM000664.2:g.88016385T>C GRCh38
NC_000002.11:g.88315904T>C , CM000664.1:g.88315904T>C GRCh37
NC_000002.10:g.88097019T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.730T>C
XR_940336.3:n.730T>C