Canonical Allele Identifier: CA2762807098
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474293T>C , CM000666.2:g.99474293T>C GRCh38
NC_000004.11:g.100395450T>C , CM000666.1:g.100395450T>C GRCh37
NC_000004.10:g.100614473T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2431A>G