Canonical Allele Identifier: CA2018053863
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.107127968G>C , CM000675.2:g.107127968G>C GRCh38
NC_000013.10:g.107780316G>C , CM000675.1:g.107780316G>C GRCh37
NC_000013.9:g.106578317G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_931710.1:n.1184+2134C>G
XR_931711.1:n.753+3004G>C
XR_931712.1:n.342+3004G>C