Canonical Allele Identifier: CA51878339
Gene:

Linked Data

dbSNP Id: rs1017879878
gnomAD v2: 2-88315817-G-T
gnomAD v3: 2-88016298-G-T
gnomAD v4: 2-88016298-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016298G>T , CM000664.2:g.88016298G>T GRCh38
NC_000002.11:g.88315817G>T , CM000664.1:g.88315817G>T GRCh37
NC_000002.10:g.88096932G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.643G>T
XR_940336.3:n.643G>T