HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70146249A>G , CM000672.2:g.70146249A>G | GRCh38 |
NC_000010.10:g.71906005A>G , CM000672.1:g.71906005A>G | GRCh37 |
NC_000010.9:g.71576011A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287078.7:c.338T>C MANE Select | ENSP00000287078.6:p.Leu113Pro | |
ENST00000287078.6:c.338T>C | ENSP00000287078.6:p.Leu113Pro | |
ENST00000335494.5:c.338T>C | ENSP00000335673.5:p.Leu113Pro | |
ENST00000479086.1:n.144+284T>C | ||
NM_001040273.2:c.338T>C | NP_001035363.1:p.Leu113Pro | |
NM_173555.3:c.338T>C | NP_775826.2:p.Leu113Pro | |
NR_073580.1:n.88+404T>C | ||
NR_073581.1:n.208+284T>C | ||
NR_073582.1:n.88+404T>C | ||
NR_073591.1:n.88+404T>C | ||
NR_073592.1:n.208+284T>C | ||
NR_073593.1:n.88+404T>C | ||
NR_073594.1:n.208+284T>C | ||
NM_173555.4:c.338T>C MANE Select | NP_775826.2:p.Leu113Pro | |
NM_001040273.3:c.338T>C | NP_001035363.1:p.Leu113Pro | |
NR_073580.2:n.48+404T>C | ||
NR_073581.2:n.168+284T>C | ||
NR_073582.2:n.48+404T>C | ||
NR_073591.2:n.48+404T>C | ||
NR_073592.2:n.168+284T>C | ||
NR_073593.2:n.48+404T>C | ||
NR_073594.2:n.168+284T>C |