Canonical Allele Identifier: CA2789779827
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122458372G>T , CM000672.2:g.122458372G>T GRCh38
NC_000010.10:g.124217888G>T , CM000672.1:g.124217888G>T GRCh37
NC_000010.9:g.124207878G>T NCBI36
NG_011554.1:g.1848G>T
NG_011725.1:g.8710G>T

Transcript Alleles

HGVS Amino-acid Change
XR_946382.1:n.1827+123C>A
XR_946383.1:n.1827+123C>A
XR_946384.1:n.1576+123C>A
XR_946385.1:n.1827+123C>A
XR_946382.2:n.1855+123C>A
XR_946383.2:n.1855+123C>A
XR_946384.2:n.1580+123C>A
XR_946385.2:n.1855+123C>A
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