Canonical Allele Identifier: CA2493232059
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485618C= , CM000664.2:g.20485618C= GRCh38
NC_000002.11:g.20685379C= , CM000664.1:g.20685379C= GRCh37
NC_000002.10:g.20548860C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+3120G=