Canonical Allele Identifier: CA995316576
Gene:

Linked Data

dbSNP Id: rs1971156740
gnomAD v3: 19-33522071-G-A
gnomAD v4: 19-33522071-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33522071G>A , CM000681.2:g.33522071G>A GRCh38
NC_000019.9:g.34012977G>A , CM000681.1:g.34012977G>A GRCh37
NC_000019.8:g.38704817G>A NCBI36
NG_013358.1:g.4823C>T
NG_013358.2:g.4823C>T

Transcript Alleles

HGVS Amino-acid Change
XR_935918.1:n.73+57G>A
XR_935919.1:n.72+53G>A
XR_001754035.2:n.81+57G>A
XR_935918.2:n.81+57G>A
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