|
ENST00000524561.2:n.3793T>A
|
|
|
|
ENST00000528374.2:c.783T>A
|
|
|
|
ENST00000529967.6:n.2531T>A
|
|
|
|
ENST00000532220.2:n.3425T>A
|
|
|
|
ENST00000642611.2:n.5392T>A
|
|
|
|
ENST00000644057.2:n.635T>A
|
|
|
|
ENST00000645004.2:n.1691T>A
|
|
|
|
ENST00000682051.1:n.4354T>A
|
|
|
|
ENST00000682110.1:n.4407T>A
|
|
|
|
ENST00000682140.1:c.4058T>A
|
ENSP00000507829.1:p.Val1353Asp
|
|
|
ENST00000682185.1:n.5497T>A
|
|
|
|
ENST00000682204.1:c.*2330T>A
|
ENSP00000507094.1:n.*2330T>A
|
|
|
ENST00000682215.1:n.4774T>A
|
|
|
|
ENST00000682288.1:c.*2623T>A
|
ENSP00000507506.1:n.*2623T>A
|
|
|
ENST00000682442.1:n.4627T>A
|
|
|
|
ENST00000682528.1:n.4484T>A
|
|
|
|
ENST00000682673.1:n.4351T>A
|
|
|
|
ENST00000682805.1:n.4812T>A
|
|
|
|
ENST00000682965.1:c.*614T>A
|
ENSP00000508229.1:n.*614T>A
|
|
|
ENST00000683093.1:n.5491T>A
|
|
|
|
ENST00000683136.1:c.4075T>A
|
ENSP00000507768.1:p.Phe1359Ile
|
|
|
ENST00000683153.1:n.4449T>A
|
|
|
|
ENST00000683365.1:n.4509T>A
|
|
|
|
ENST00000683377.1:n.4407T>A
|
|
|
|
ENST00000683456.1:c.*1329T>A
|
ENSP00000508318.1:n.*1329T>A
|
|
|
ENST00000683522.1:n.4407T>A
|
|
|
|
ENST00000683562.1:c.*2361T>A
|
ENSP00000508265.1:n.*2361T>A
|
|
|
ENST00000683693.1:n.5839T>A
|
|
|
|
ENST00000683725.1:c.4192T>A
|
ENSP00000507496.1:p.Phe1398Ile
|
|
|
ENST00000684010.1:n.4402T>A
|
|
|
|
ENST00000684157.1:n.5392T>A
|
|
|
|
ENST00000684253.1:n.4310T>A
|
|
|
|
ENST00000684288.1:c.*2364T>A
|
ENSP00000507143.1:n.*2364T>A
|
|
|
ENST00000684313.1:n.3839T>A
|
|
|
|
ENST00000684332.1:n.4480T>A
|
|
|
|
ENST00000684371.1:n.4513T>A
|
|
|
|
ENST00000684404.1:n.5435T>A
|
|
|
|
ENST00000684442.1:n.4631T>A
|
|
|
|
ENST00000684555.1:c.*2404T>A
|
ENSP00000507705.1:n.*2404T>A
|
|
|
ENST00000684571.1:c.4033T>A
|
ENSP00000506935.1:p.Phe1345Ile
|
|
|
ENST00000684593.1:c.*3897T>A
|
ENSP00000507005.1:n.*3897T>A
|
|
|
ENST00000684711.1:c.*2588T>A
|
ENSP00000506841.1:n.*2588T>A
|
|
|
ENST00000302539.9:c.4195T>A
|
ENSP00000303960.4:p.Phe1399Ile
|
|
|
ENST00000389817.8:c.4192T>A
MANE Select
|
ENSP00000374467.4:p.Phe1398Ile
|
|
|
ENST00000642271.1:c.4189T>A
|
ENSP00000493749.1:p.Phe1397Ile
|
|
|
ENST00000642579.1:c.2246T>A
|
|
|
|
ENST00000642611.1:n.5277T>A
|
|
|
|
ENST00000642902.1:c.3974T>A
|
|
|
|
ENST00000643260.1:c.4192T>A
|
ENSP00000494450.1:p.Phe1398Ile
|
|
|
ENST00000643562.1:c.*2314T>A
|
ENSP00000496124.1:n.*2314T>A
|
|
|
ENST00000643925.1:c.2832T>A
|
|
|
|
ENST00000644057.1:n.269T>A
|
|
|
|
ENST00000644484.1:c.*3578T>A
|
ENSP00000493558.1:n.*3578T>A
|
|
|
ENST00000644675.1:c.*2364T>A
|
ENSP00000494567.1:n.*2364T>A
|
|
|
ENST00000644757.1:c.*3202+406T>A
|
ENSP00000495085.1:n.*3202+406T>A
|
|
|
ENST00000644772.1:c.4258T>A
|
ENSP00000494321.1:p.Phe1420Ile
|
|
|
ENST00000645004.1:n.1885T>A
|
|
|
|
ENST00000645076.1:c.3391T>A
|
|
|
|
ENST00000645417.1:c.1380T>A
|
|
|
|
ENST00000645744.1:c.*3957T>A
|
ENSP00000494564.1:n.*3957T>A
|
|
|
ENST00000645760.1:c.4613T>A
|
|
|
|
ENST00000645884.1:c.*1475T>A
|
ENSP00000495516.1:n.*1475T>A
|
|
|
ENST00000646003.1:c.*2294T>A
|
ENSP00000495259.1:n.*2294T>A
|
|
|
ENST00000646207.1:c.*3029T>A
|
ENSP00000495025.1:n.*3029T>A
|
|
|
ENST00000646276.1:c.*3596T>A
|
ENSP00000496070.1:n.*3596T>A
|
|
|
ENST00000646592.1:c.3498T>A
|
|
|
|
ENST00000646902.1:c.4159T>A
|
ENSP00000494101.1:p.Phe1387Ile
|
|
|
ENST00000646993.1:c.*2734T>A
|
ENSP00000493720.1:n.*2734T>A
|
|
|
ENST00000647013.1:c.4198T>A
|
ENSP00000496741.1:n.4198T>A
|
|
|
ENST00000647015.1:c.3943T>A
|
ENSP00000495389.1:p.Phe1315Ile
|
|
|
ENST00000647086.1:c.*3778T>A
|
ENSP00000493677.1:n.*3778T>A
|
|
|
ENST00000647158.1:c.*2479T>A
|
ENSP00000495744.1:n.*2479T>A
|
|
|
ENST00000302539.8:c.4195T>A
|
ENSP00000303960.4:p.Phe1399Ile
|
|
|
ENST00000389817.7:c.4192T>A
|
ENSP00000374467.3:p.Phe1398Ile
|
|
|
ENST00000525022.1:n.58T>A
|
|
|
|
ENST00000526168.5:c.60T>A
|
|
|
|
ENST00000531642.5:c.28T>A
|
|
|
|
NM_000352.4:c.4192T>A
|
NP_000343.2:p.Phe1398Ile
|
|
|
NM_001287174.1:c.4195T>A
|
NP_001274103.1:p.Phe1399Ile
|
|
|
XM_011520331.1:c.4192T>A
|
XP_011518633.1:p.Phe1398Ile
|
|
|
XM_011520332.1:c.4195T>A
|
XP_011518634.1:p.Phe1399Ile
|
|
|
XM_011520333.1:c.2692T>A
|
XP_011518635.1:p.Phe898Ile
|
|
|
XR_930890.1:n.4258T>A
|
|
|
|
NM_001351295.1:c.4258T>A
|
NP_001338224.1:p.Phe1420Ile
|
|
|
NM_001351296.1:c.4192T>A
|
NP_001338225.1:p.Phe1398Ile
|
|
|
NM_001351297.1:c.4189T>A
|
NP_001338226.1:p.Phe1397Ile
|
|
|
NR_147094.1:n.4487T>A
|
|
|
|
XM_017018197.2:c.4261T>A
|
XP_016873686.1:p.Phe1421Ile
|
|
|
XM_017018199.1:c.4258T>A
|
XP_016873688.1:p.Phe1420Ile
|
|
|
XM_017018201.2:c.4261T>A
|
XP_016873690.1:p.Phe1421Ile
|
|
|
XM_017018202.1:c.2758T>A
|
XP_016873691.1:p.Phe920Ile
|
|
|
XM_017018204.1:c.2149T>A
|
XP_016873693.1:p.Phe717Ile
|
|
|
XM_024448668.1:c.2560T>A
|
XP_024304436.1:p.Phe854Ile
|
|
|
XR_001747945.2:n.4333T>A
|
|
|
|
XR_001747946.2:n.4264T>A
|
|
|
|
XR_002957189.1:n.5914T>A
|
|
|
|
NM_000352.6:c.4192T>A
MANE Select
|
NP_000343.2:p.Phe1398Ile
|
|
|
NM_001287174.2:c.4195T>A
|
NP_001274103.1:p.Phe1399Ile
|
|
|
NM_001351295.2:c.4258T>A
|
NP_001338224.1:p.Phe1420Ile
|
|
|
NM_001351296.2:c.4192T>A
|
NP_001338225.1:p.Phe1398Ile
|
|
|
NM_001351297.2:c.4189T>A
|
NP_001338226.1:p.Phe1397Ile
|
|
|
NR_147094.2:n.4487T>A
|
|
|
|
NM_001287174.3:c.4195T>A
|
NP_001274103.1:p.Phe1399Ile
|
|
