|
ENST00000509514.6:c.437T>C
|
ENSP00000426272.2:p.Ile146Thr
|
|
|
ENST00000518349.6:c.113-17707T>C
|
ENSP00000507185.1:n.113-17707T>C
|
|
|
ENST00000682445.1:c.*318T>C
|
ENSP00000508061.1:n.*318T>C
|
|
|
ENST00000682531.1:n.538T>C
|
|
|
|
ENST00000682626.1:c.465T>C
|
ENSP00000507857.1:p.Asp155=
|
|
|
ENST00000682996.1:c.437T>C
|
ENSP00000507792.1:p.Ile146Thr
|
|
|
ENST00000683265.1:n.530T>C
|
|
|
|
ENST00000683371.1:c.*567T>C
|
ENSP00000508376.1:n.*567T>C
|
|
|
ENST00000683390.1:n.2127T>C
|
|
|
|
ENST00000683549.1:n.358T>C
|
|
|
|
ENST00000683936.1:c.*322T>C
|
ENSP00000507721.1:n.*322T>C
|
|
|
ENST00000683974.1:n.519T>C
|
|
|
|
ENST00000683996.1:c.26T>C
|
ENSP00000507060.1:p.Ile9Thr
|
|
|
ENST00000684131.1:n.276T>C
|
|
|
|
ENST00000684160.1:c.*127T>C
|
ENSP00000507821.1:n.*127T>C
|
|
|
ENST00000684214.1:c.437T>C
|
ENSP00000508071.1:p.Ile146Thr
|
|
|
ENST00000414835.7:c.512T>C
|
ENSP00000411960.3:p.Ile171Thr
|
|
|
ENST00000510025.7:c.437T>C
MANE Select
|
ENSP00000424940.3:p.Ile146Thr
|
|
|
ENST00000643250.1:c.*309T>C
|
ENSP00000494737.1:n.*309T>C
|
|
|
ENST00000644146.1:c.*15T>C
|
ENSP00000494808.1:n.*15T>C
|
|
|
ENST00000645099.1:c.-5T>C
|
ENSP00000496091.1:n.-5T>C
|
|
|
ENST00000645702.1:c.26T>C
|
ENSP00000496432.1:p.Ile9Thr
|
|
|
ENST00000645832.1:c.*322T>C
|
ENSP00000494316.1:n.*322T>C
|
|
|
ENST00000646058.1:c.437T>C
|
ENSP00000493579.1:p.Ile146Thr
|
|
|
ENST00000646355.1:c.*443T>C
|
ENSP00000493801.1:n.*443T>C
|
|
|
ENST00000646554.1:c.*415T>C
|
ENSP00000494542.1:n.*415T>C
|
|
|
ENST00000646590.1:c.428T>C
|
ENSP00000494892.1:p.Ile143Thr
|
|
|
ENST00000647335.1:c.*404T>C
|
ENSP00000495180.1:n.*404T>C
|
|
|
ENST00000647342.1:c.*368T>C
|
ENSP00000494992.1:n.*368T>C
|
|
|
ENST00000256216.10:c.437T>C
|
ENSP00000256216.6:p.Ile146Thr
|
|
|
ENST00000414835.6:c.17T>C
|
ENSP00000411960.2:p.Ile6Thr
|
|
|
ENST00000442060.7:c.437T>C
|
ENSP00000390208.3:p.Ile146Thr
|
|
|
ENST00000503168.5:n.426T>C
|
|
|
|
ENST00000504811.5:c.512T>C
|
ENSP00000420914.1:p.Ile171Thr
|
|
|
ENST00000505181.5:n.140T>C
|
|
|
|
ENST00000508788.5:n.339T>C
|
|
|
|
ENST00000509514.5:c.-448T>C
|
ENSP00000426272.1:n.-448T>C
|
|
|
ENST00000510025.5:c.365T>C
|
ENSP00000424940.1:p.Ile122Thr
|
|
|
ENST00000512644.1:n.5T>C
|
|
|
|
ENST00000512841.5:n.485T>C
|
|
|
|
ENST00000513628.5:c.26T>C
|
ENSP00000425993.1:p.Ile9Thr
|
|
|
ENST00000515235.6:n.497T>C
|
|
|
|
ENST00000515320.5:c.383T>C
|
ENSP00000424613.1:p.Ile128Thr
|
|
|
NM_000414.3:c.437T>C
|
NP_000405.1:p.Ile146Thr
|
|
|
NM_001199291.2:c.512T>C
|
NP_001186220.1:p.Ile171Thr
|
|
|
NM_001199292.1:c.383T>C
|
NP_001186221.1:p.Ile128Thr
|
|
|
NM_001292027.1:c.365T>C
|
NP_001278956.1:p.Ile122Thr
|
|
|
NM_001292028.1:c.17T>C
|
NP_001278957.1:p.Ile6Thr
|
|
|
NM_000414.4:c.437T>C
MANE Select
|
NP_000405.1:p.Ile146Thr
|
|
|
NM_001199291.3:c.512T>C
|
NP_001186220.1:p.Ile171Thr
|
|
|
NM_001199292.2:c.383T>C
|
NP_001186221.1:p.Ile128Thr
|
|
|
NM_001292027.2:c.365T>C
|
NP_001278956.1:p.Ile122Thr
|
|
|
NM_001292028.2:c.17T>C
|
NP_001278957.1:p.Ile6Thr
|
|
|
NM_001374497.1:c.428T>C
|
NP_001361426.1:p.Ile143Thr
|
|
|
NM_001374498.1:c.437T>C
|
NP_001361427.1:p.Ile146Thr
|
|
|
NM_001374499.1:c.110T>C
|
NP_001361428.1:p.Ile37Thr
|
|
|
NM_001374500.1:c.-5T>C
|
NP_001361429.1:n.-5T>C
|
|
|
NM_001374501.1:c.26T>C
|
NP_001361430.1:p.Ile9Thr
|
|
|
NM_001374502.1:c.26T>C
|
NP_001361431.1:p.Ile9Thr
|
|
|
NM_001374503.1:c.26T>C
|
NP_001361432.1:p.Ile9Thr
|
|
|
NR_164653.1:n.516T>C
|
|
|
|
NR_164654.1:n.704T>C
|
|
|
