HGVS | Genome Assembly |
---|---|
NC_000012.12:g.54318524G>A , CM000674.2:g.54318524G>A | GRCh38 |
NC_000012.11:g.54712308G>A , CM000674.1:g.54712308G>A | GRCh37 |
NC_000012.10:g.52998575G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000548076.5:n.161+17144G>A | ||
ENST00000552848.5:c.-81-6559G>A | ENSP00000449414.1:n.-81-6559G>A |