Canonical Allele Identifier: CA534638449
Gene:

Linked Data

dbSNP Id: rs550008648
gnomAD v2: 2-88315863-A-T
gnomAD v3: 2-88016344-A-T
gnomAD v4: 2-88016344-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016344A>T , CM000664.2:g.88016344A>T GRCh38
NC_000002.11:g.88315863A>T , CM000664.1:g.88315863A>T GRCh37
NC_000002.10:g.88096978A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.689A>T
XR_940336.3:n.689A>T