Canonical Allele Identifier: CA427349509
Gene:

Linked Data

dbSNP Id: rs1386628736
gnomAD v2: 2-88315945-C-T
gnomAD v3: 2-88016426-C-T
gnomAD v4: 2-88016426-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016426C>T , CM000664.2:g.88016426C>T GRCh38
NC_000002.11:g.88315945C>T , CM000664.1:g.88315945C>T GRCh37
NC_000002.10:g.88097060C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.771C>T
XR_940336.3:n.771C>T