HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42909359T>A , CM000679.2:g.42909359T>A | GRCh38 |
NC_000017.10:g.41061376T>A , CM000679.1:g.41061376T>A | GRCh37 |
NC_000017.9:g.38314902T>A | NCBI36 |
NG_011808.1:g.13562T>A , LRG_147:g.13562T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253801.7:c.503T>A MANE Select | ENSP00000253801.1:p.Leu168Gln | |
ENST00000253801.6:c.503T>A | ENSP00000253801.1:p.Leu168Gln | |
ENST00000585489.1:c.447-1556T>A | ENSP00000466202.1:n.447-1556T>A | |
ENST00000592383.5:c.426T>A | ENSP00000465958.1:p.Ser142= | |
NM_000151.3:c.503T>A | NP_000142.2:p.Leu168Gln | |
NM_001270397.1:c.426T>A | NP_001257326.1:p.Ser142= | |
NM_000151.4:c.503T>A MANE Select | NP_000142.2:p.Leu168Gln | |
NM_001270397.2:c.426T>A | NP_001257326.1:p.Ser142= |