Canonical Allele Identifier: CA2793744759
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072635C>T , CM000673.2:g.116072635C>T GRCh38
NC_000011.9:g.115943353C>T , CM000673.1:g.115943353C>T GRCh37
NC_000011.8:g.115448563C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+379G>A
XR_948056.1:n.311-5430G>A
XR_948057.1:n.97+474G>A
XR_001748401.1:n.192+379G>A
XR_948055.2:n.192+379G>A
XR_948056.2:n.314-5430G>A
XR_948057.2:n.97+474G>A
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