Canonical Allele Identifier: CA2522946810
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56262247C>A , CM000663.2:g.56262247C>A GRCh38
NC_000001.10:g.56727919C>A , CM000663.1:g.56727919C>A GRCh37
NC_000001.9:g.56500507C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.760-13047G>T ENSP00000493138.1:n.760-13047G>T
ENST00000641346.1:c.367-13047G>T
ENST00000641415.1:c.193-8354G>T
ENST00000641494.1:c.379-13047G>T
ENST00000642129.1:c.769-13047G>T
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