Canonical Allele Identifier: CA2293960049
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31756440C= , CM000680.2:g.31756440C= GRCh38
NC_000018.9:g.29336403C= , CM000680.1:g.29336403C= GRCh37
NC_000018.8:g.27590401C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935338.1:n.66-5699C=