Canonical Allele Identifier: CA1035827911
Gene:

Linked Data

dbSNP Id: rs1680376315
gnomAD v3: 2-122884168-T-C
gnomAD v4: 2-122884168-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122884168T>C , CM000664.2:g.122884168T>C GRCh38
NC_000002.11:g.123641744T>C , CM000664.1:g.123641744T>C GRCh37
NC_000002.10:g.123358214T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-774T>C
XR_001739692.1:n.1451-774T>C
XR_923292.2:n.1358-774T>C
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