HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189098756T>G , CM000664.2:g.189098756T>G | GRCh38 |
NC_000002.11:g.189963482T>G , CM000664.1:g.189963482T>G | GRCh37 |
NC_000002.10:g.189671727T>G | NCBI36 |
NG_011799.1:g.86124A>C | |
NG_011799.2:g.86124A>C | |
NG_011799.3:g.131546A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.373A>C MANE Select | ENSP00000364000.3:p.Thr125Pro | |
ENST00000649966.1:c.235A>C | ENSP00000496785.1:p.Thr79Pro | |
ENST00000374866.7:c.373A>C | ENSP00000364000.3:p.Thr125Pro | |
ENST00000618828.1:c.-258A>C | ENSP00000482184.1:n.-258A>C | |
NM_000393.3:c.373A>C | NP_000384.2:p.Thr125Pro | |
XM_011510573.1:c.235A>C | XP_011508875.1:p.Thr79Pro | |
NM_000393.4:c.373A>C | NP_000384.2:p.Thr125Pro | |
XM_011510573.3:c.235A>C | XP_011508875.1:p.Thr79Pro | |
NM_000393.5:c.373A>C MANE Select | NP_000384.2:p.Thr125Pro |