Canonical Allele Identifier: CA995316586
Gene:

Linked Data

gnomAD v3: 19-33522124-A-C
gnomAD v4: 19-33522124-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33522124A>C , CM000681.2:g.33522124A>C GRCh38
NC_000019.9:g.34013030A>C , CM000681.1:g.34013030A>C GRCh37
NC_000019.8:g.38704870A>C NCBI36
NG_013358.1:g.4770T>G
NG_013358.2:g.4770T>G

Transcript Alleles

HGVS Amino-acid Change
XR_935918.1:n.73+110A>C
XR_935919.1:n.72+106A>C
XR_001754035.2:n.81+110A>C
XR_935918.2:n.81+110A>C
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