HGVS | Genome Assembly |
---|---|
NC_000001.11:g.207454283C>A , CM000663.2:g.207454283C>A | GRCh38 |
NC_000001.10:g.207627628C>A , CM000663.1:g.207627628C>A | GRCh37 |
NC_000001.9:g.205694251C>A | NCBI36 |
NG_013006.1:g.4984C>A , LRG_348:g.4984C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699640.1:c.-385+1188C>A | ENSP00000514493.1:n.-385+1188C>A | |
ENST00000367057.7:c.-136C>A | ENSP00000356024.3:n.-136C>A | |
ENST00000367058.7:c.-136C>A | ENSP00000356025.3:n.-136C>A | |
ENST00000367059.3:c.-136C>A | ENSP00000356026.3:n.-136C>A |