Canonical Allele Identifier: CA2604171728
Gene:

Linked Data

dbSNP Id: rs2104659712
gnomAD v3: 2-122883850-G-A
gnomAD v4: 2-122883850-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122883850G>A , CM000664.2:g.122883850G>A GRCh38
NC_000002.11:g.123641426G>A , CM000664.1:g.123641426G>A GRCh37
NC_000002.10:g.123357896G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-1092G>A
XR_001739692.1:n.1451-1092G>A
XR_923292.2:n.1358-1092G>A
Search 100 bp 5'
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