HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42909334T>A , CM000679.2:g.42909334T>A | GRCh38 |
NC_000017.10:g.41061351T>A , CM000679.1:g.41061351T>A | GRCh37 |
NC_000017.9:g.38314877T>A | NCBI36 |
NG_011808.1:g.13537T>A , LRG_147:g.13537T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.478T>A MANE Select | ENSP00000253801.1:p.Trp160Arg | |
ENST00000253801.6:c.478T>A | ENSP00000253801.1:p.Trp160Arg | |
ENST00000585489.1:c.447-1581T>A | ENSP00000466202.1:n.447-1581T>A | |
ENST00000592383.5:c.401T>A | ENSP00000465958.1:p.Leu134Gln | |
NM_000151.3:c.478T>A | NP_000142.2:p.Trp160Arg | |
NM_001270397.1:c.401T>A | NP_001257326.1:p.Leu134Gln | |
NM_000151.4:c.478T>A MANE Select | NP_000142.2:p.Trp160Arg | |
NM_001270397.2:c.401T>A | NP_001257326.1:p.Leu134Gln |