Canonical Allele Identifier: CA1035827780
Gene:

Linked Data

dbSNP Id: rs1680369512
gnomAD v3: 2-122883738-C-T
gnomAD v4: 2-122883738-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122883738C>T , CM000664.2:g.122883738C>T GRCh38
NC_000002.11:g.123641314C>T , CM000664.1:g.123641314C>T GRCh37
NC_000002.10:g.123357784C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-1204C>T
XR_001739692.1:n.1451-1204C>T
XR_923292.2:n.1358-1204C>T
Search 100 bp 5'
Search 100 bp 3'