Canonical Allele Identifier: CA2518077149
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12577984T>C , CM000666.2:g.12577984T>C GRCh38
NC_000004.11:g.12579608T>C , CM000666.1:g.12579608T>C GRCh37
NC_000004.10:g.12188706T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31358A>G
XR_001741374.1:n.254+44671A>G
XR_925406.3:n.140+31358A>G