Canonical Allele Identifier: CA1561475019
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87136800T>G , CM000667.2:g.87136800T>G GRCh38
NC_000005.9:g.86432617T>G , CM000667.1:g.86432617T>G GRCh37
NC_000005.8:g.86468373T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_105018.1:n.48-654T>G