Canonical Allele Identifier: CA534638452
Gene:

Linked Data

dbSNP Id: rs547753513
gnomAD v2: 2-88315868-T-A
gnomAD v3: 2-88016349-T-A
gnomAD v4: 2-88016349-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016349T>A , CM000664.2:g.88016349T>A GRCh38
NC_000002.11:g.88315868T>A , CM000664.1:g.88315868T>A GRCh37
NC_000002.10:g.88096983T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.694T>A
XR_940336.3:n.694T>A