Canonical Allele Identifier: CA1035827867
Gene:

Linked Data

dbSNP Id: rs1680373068
gnomAD v3: 2-122883995-T-G
gnomAD v4: 2-122883995-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122883995T>G , CM000664.2:g.122883995T>G GRCh38
NC_000002.11:g.123641571T>G , CM000664.1:g.123641571T>G GRCh37
NC_000002.10:g.123358041T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-947T>G
XR_001739692.1:n.1451-947T>G
XR_923292.2:n.1358-947T>G
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