|
ENST00000509514.6:c.438T>C
|
ENSP00000426272.2:p.Ile146=
|
|
|
ENST00000518349.6:c.113-17706T>C
|
ENSP00000507185.1:n.113-17706T>C
|
|
|
ENST00000682445.1:c.*319T>C
|
ENSP00000508061.1:n.*319T>C
|
|
|
ENST00000682531.1:n.539T>C
|
|
|
|
ENST00000682626.1:c.466T>C
|
ENSP00000507857.1:p.Tyr156His
|
|
|
ENST00000682996.1:c.438T>C
|
ENSP00000507792.1:p.Ile146=
|
|
|
ENST00000683265.1:n.531T>C
|
|
|
|
ENST00000683371.1:c.*568T>C
|
ENSP00000508376.1:n.*568T>C
|
|
|
ENST00000683390.1:n.2128T>C
|
|
|
|
ENST00000683549.1:n.359T>C
|
|
|
|
ENST00000683936.1:c.*323T>C
|
ENSP00000507721.1:n.*323T>C
|
|
|
ENST00000683974.1:n.520T>C
|
|
|
|
ENST00000683996.1:c.27T>C
|
ENSP00000507060.1:p.Ile9=
|
|
|
ENST00000684131.1:n.277T>C
|
|
|
|
ENST00000684160.1:c.*128T>C
|
ENSP00000507821.1:n.*128T>C
|
|
|
ENST00000684214.1:c.438T>C
|
ENSP00000508071.1:p.Ile146=
|
|
|
ENST00000414835.7:c.513T>C
|
ENSP00000411960.3:p.Ile171=
|
|
|
ENST00000510025.7:c.438T>C
MANE Select
|
ENSP00000424940.3:p.Ile146=
|
|
|
ENST00000643250.1:c.*310T>C
|
ENSP00000494737.1:n.*310T>C
|
|
|
ENST00000644146.1:c.*16T>C
|
ENSP00000494808.1:n.*16T>C
|
|
|
ENST00000645099.1:c.-4T>C
|
ENSP00000496091.1:n.-4T>C
|
|
|
ENST00000645702.1:c.27T>C
|
ENSP00000496432.1:p.Ile9=
|
|
|
ENST00000645832.1:c.*323T>C
|
ENSP00000494316.1:n.*323T>C
|
|
|
ENST00000646058.1:c.438T>C
|
ENSP00000493579.1:p.Ile146=
|
|
|
ENST00000646355.1:c.*444T>C
|
ENSP00000493801.1:n.*444T>C
|
|
|
ENST00000646554.1:c.*416T>C
|
ENSP00000494542.1:n.*416T>C
|
|
|
ENST00000646590.1:c.429T>C
|
ENSP00000494892.1:p.Ile143=
|
|
|
ENST00000647335.1:c.*405T>C
|
ENSP00000495180.1:n.*405T>C
|
|
|
ENST00000647342.1:c.*369T>C
|
ENSP00000494992.1:n.*369T>C
|
|
|
ENST00000256216.10:c.438T>C
|
ENSP00000256216.6:p.Ile146=
|
|
|
ENST00000414835.6:c.18T>C
|
ENSP00000411960.2:p.Ile6=
|
|
|
ENST00000442060.7:c.438T>C
|
ENSP00000390208.3:p.Ile146=
|
|
|
ENST00000503168.5:n.427T>C
|
|
|
|
ENST00000504811.5:c.513T>C
|
ENSP00000420914.1:p.Ile171=
|
|
|
ENST00000505181.5:n.141T>C
|
|
|
|
ENST00000508788.5:n.340T>C
|
|
|
|
ENST00000509514.5:c.-447T>C
|
ENSP00000426272.1:n.-447T>C
|
|
|
ENST00000510025.5:c.366T>C
|
ENSP00000424940.1:p.Ile122=
|
|
|
ENST00000512644.1:n.6T>C
|
|
|
|
ENST00000512841.5:n.486T>C
|
|
|
|
ENST00000513628.5:c.27T>C
|
ENSP00000425993.1:p.Ile9=
|
|
|
ENST00000515235.6:n.498T>C
|
|
|
|
ENST00000515320.5:c.384T>C
|
ENSP00000424613.1:p.Ile128=
|
|
|
NM_000414.3:c.438T>C
|
NP_000405.1:p.Ile146=
|
|
|
NM_001199291.2:c.513T>C
|
NP_001186220.1:p.Ile171=
|
|
|
NM_001199292.1:c.384T>C
|
NP_001186221.1:p.Ile128=
|
|
|
NM_001292027.1:c.366T>C
|
NP_001278956.1:p.Ile122=
|
|
|
NM_001292028.1:c.18T>C
|
NP_001278957.1:p.Ile6=
|
|
|
NM_000414.4:c.438T>C
MANE Select
|
NP_000405.1:p.Ile146=
|
|
|
NM_001199291.3:c.513T>C
|
NP_001186220.1:p.Ile171=
|
|
|
NM_001199292.2:c.384T>C
|
NP_001186221.1:p.Ile128=
|
|
|
NM_001292027.2:c.366T>C
|
NP_001278956.1:p.Ile122=
|
|
|
NM_001292028.2:c.18T>C
|
NP_001278957.1:p.Ile6=
|
|
|
NM_001374497.1:c.429T>C
|
NP_001361426.1:p.Ile143=
|
|
|
NM_001374498.1:c.438T>C
|
NP_001361427.1:p.Ile146=
|
|
|
NM_001374499.1:c.111T>C
|
NP_001361428.1:p.Ile37=
|
|
|
NM_001374500.1:c.-4T>C
|
NP_001361429.1:n.-4T>C
|
|
|
NM_001374501.1:c.27T>C
|
NP_001361430.1:p.Ile9=
|
|
|
NM_001374502.1:c.27T>C
|
NP_001361431.1:p.Ile9=
|
|
|
NM_001374503.1:c.27T>C
|
NP_001361432.1:p.Ile9=
|
|
|
NR_164653.1:n.517T>C
|
|
|
|
NR_164654.1:n.705T>C
|
|
|
