HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675833T>G , CM000685.2:g.38675833T>G | GRCh38 |
NC_000023.10:g.38535087T>G , CM000685.1:g.38535087T>G | GRCh37 |
NC_000023.9:g.38420031T>G | NCBI36 |
NG_009160.1:g.119357T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.570T>G MANE Select | ENSP00000367743.2:p.Thr190= | |
ENST00000286824.6:c.621T>G | ENSP00000286824.6:p.Thr207= | |
ENST00000378482.6:c.570T>G | ENSP00000367743.2:p.Thr190= | |
ENST00000419600.3:n.514T>G | ||
ENST00000465127.1:c.660T>G | ENSP00000417050.1:p.Thr220= | |
ENST00000471410.5:c.*596T>G | ENSP00000419290.1:n.*596T>G | |
ENST00000475216.5:c.*563T>G | ENSP00000418586.1:n.*563T>G | |
NM_004615.3:c.570T>G | NP_004606.2:p.Thr190= | |
NM_004615.4:c.570T>G MANE Select | NP_004606.2:p.Thr190= |