Canonical Allele Identifier: CA2499488267
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128455576T>C , CM000673.2:g.128455576T>C GRCh38
NC_000011.9:g.128325471T>C , CM000673.1:g.128325471T>C GRCh37
NC_000011.8:g.127830681T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948164.1:n.4296T>C
XR_948165.1:n.3467+829T>C