Canonical Allele Identifier: CA1035684368
Gene:

Linked Data

dbSNP Id: rs1678951907
gnomAD v3: 2-120551843-C-A
gnomAD v4: 2-120551843-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120551843C>A , CM000664.2:g.120551843C>A GRCh38
NC_000002.11:g.121309419C>A , CM000664.1:g.121309419C>A GRCh37
NC_000002.10:g.121025889C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923262.1:n.1487+45G>T
XR_001739680.2:n.1495+45G>T
XR_001739681.2:n.2128+45G>T
XR_001739682.1:n.1495+45G>T
XR_002959417.1:n.1495+45G>T
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