Canonical Allele Identifier: CA1333019283
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227644742C>G , CM000664.2:g.227644742C>G GRCh38
NC_000002.11:g.228509458C>G , CM000664.1:g.228509458C>G GRCh37
NC_000002.10:g.228217702C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000509872.1:n.805-2466G>C