Canonical Allele Identifier: CA2791022848
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34759326C>A , CM000673.2:g.34759326C>A GRCh38
NC_000011.9:g.34780873C>A , CM000673.1:g.34780873C>A GRCh37
NC_000011.8:g.34737449C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_428897.2:n.579+4719C>A
XR_931188.1:n.693+4719C>A
XR_931189.1:n.854+4719C>A
XR_931190.1:n.639+4719C>A
XR_931191.1:n.689+4719C>A
XR_001748174.1:n.855+4719C>A
XR_001748176.1:n.1016+4719C>A
XR_002957246.1:n.639+4719C>A
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