Canonical Allele Identifier: CA2539180419
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.112988338G>A , CM000669.2:g.112988338G>A GRCh38
NC_000007.13:g.112628393G>A , CM000669.1:g.112628393G>A GRCh37
NC_000007.12:g.112415629G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110162.1:n.77-1674C>T