Canonical Allele Identifier: CA11466369
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.6214310T>C , CM000665.2:g.6214310T>C GRCh38
NC_000003.11:g.6255997T>C , CM000665.1:g.6255997T>C GRCh37
NC_000003.10:g.6230997T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940577.1:n.648+90137T>C
XR_940578.1:n.649-600T>C
XR_940578.2:n.781-600T>C