HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42909307T>G , CM000679.2:g.42909307T>G | GRCh38 |
NC_000017.10:g.41061324T>G , CM000679.1:g.41061324T>G | GRCh37 |
NC_000017.9:g.38314850T>G | NCBI36 |
NG_011808.1:g.13510T>G , LRG_147:g.13510T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.451T>G MANE Select | ENSP00000253801.1:p.Leu151Val | |
ENST00000253801.6:c.451T>G | ENSP00000253801.1:p.Leu151Val | |
ENST00000585489.1:c.447-1608T>G | ENSP00000466202.1:n.447-1608T>G | |
ENST00000592383.5:c.374T>G | ENSP00000465958.1:p.Leu125Arg | |
NM_000151.3:c.451T>G | NP_000142.2:p.Leu151Val | |
NM_001270397.1:c.374T>G | NP_001257326.1:p.Leu125Arg | |
NM_000151.4:c.451T>G MANE Select | NP_000142.2:p.Leu151Val | |
NM_001270397.2:c.374T>G | NP_001257326.1:p.Leu125Arg |