Canonical Allele Identifier: CA2557004957
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108773T>G , CM000678.2:g.49108773T>G GRCh38
NC_000016.9:g.49142684T>G , CM000678.1:g.49142684T>G GRCh37
NC_000016.8:g.47700185T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1171A>C
XR_001752138.2:n.591+5203A>C
XR_933517.2:n.810+1171A>C
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