Canonical Allele Identifier: CA2517750721
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148748464T>C , CM000666.2:g.148748464T>C GRCh38
NC_000004.11:g.149669616T>C , CM000666.1:g.149669616T>C GRCh37
NC_000004.10:g.149889066T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741441.1:n.1746-118293T>C