Canonical Allele Identifier: CA1941456055
Gene:

Linked Data

dbSNP Id: rs2097478821
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122458429A>G , CM000672.2:g.122458429A>G GRCh38
NC_000010.10:g.124217945A>G , CM000672.1:g.124217945A>G GRCh37
NC_000010.9:g.124207935A>G NCBI36
NG_011554.1:g.1905A>G
NG_011725.1:g.8767A>G

Transcript Alleles

HGVS Amino-acid Change
XR_946382.1:n.1827+66T>C
XR_946383.1:n.1827+66T>C
XR_946384.1:n.1576+66T>C
XR_946385.1:n.1827+66T>C
XR_946382.2:n.1855+66T>C
XR_946383.2:n.1855+66T>C
XR_946384.2:n.1580+66T>C
XR_946385.2:n.1855+66T>C
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