|
ENST00000524561.2:n.3740C>T
|
|
|
|
ENST00000528374.2:c.730C>T
|
|
|
|
ENST00000529967.6:n.2478C>T
|
|
|
|
ENST00000532220.2:n.3372C>T
|
|
|
|
ENST00000642611.2:n.5339C>T
|
|
|
|
ENST00000644057.2:n.582C>T
|
|
|
|
ENST00000645004.2:n.1638C>T
|
|
|
|
ENST00000682051.1:n.4301C>T
|
|
|
|
ENST00000682110.1:n.4354C>T
|
|
|
|
ENST00000682140.1:c.4005C>T
|
ENSP00000507829.1:p.His1335=
|
|
|
ENST00000682185.1:n.5444C>T
|
|
|
|
ENST00000682204.1:c.*2277C>T
|
ENSP00000507094.1:n.*2277C>T
|
|
|
ENST00000682215.1:n.4721C>T
|
|
|
|
ENST00000682288.1:c.*2570C>T
|
ENSP00000507506.1:n.*2570C>T
|
|
|
ENST00000682442.1:n.4574C>T
|
|
|
|
ENST00000682528.1:n.4431C>T
|
|
|
|
ENST00000682673.1:n.4298C>T
|
|
|
|
ENST00000682805.1:n.4759C>T
|
|
|
|
ENST00000682965.1:c.*561C>T
|
ENSP00000508229.1:n.*561C>T
|
|
|
ENST00000683093.1:n.5438C>T
|
|
|
|
ENST00000683136.1:c.4022C>T
|
ENSP00000507768.1:p.Thr1341Ile
|
|
|
ENST00000683153.1:n.4396C>T
|
|
|
|
ENST00000683365.1:n.4456C>T
|
|
|
|
ENST00000683377.1:n.4354C>T
|
|
|
|
ENST00000683456.1:c.*1276C>T
|
ENSP00000508318.1:n.*1276C>T
|
|
|
ENST00000683522.1:n.4354C>T
|
|
|
|
ENST00000683562.1:c.*2308C>T
|
ENSP00000508265.1:n.*2308C>T
|
|
|
ENST00000683693.1:n.5786C>T
|
|
|
|
ENST00000683725.1:c.4139C>T
|
ENSP00000507496.1:p.Thr1380Ile
|
|
|
ENST00000684010.1:n.4349C>T
|
|
|
|
ENST00000684157.1:n.5339C>T
|
|
|
|
ENST00000684253.1:n.4257C>T
|
|
|
|
ENST00000684288.1:c.*2311C>T
|
ENSP00000507143.1:n.*2311C>T
|
|
|
ENST00000684313.1:n.3786C>T
|
|
|
|
ENST00000684332.1:n.4427C>T
|
|
|
|
ENST00000684371.1:n.4460C>T
|
|
|
|
ENST00000684404.1:n.5382C>T
|
|
|
|
ENST00000684442.1:n.4578C>T
|
|
|
|
ENST00000684555.1:c.*2351C>T
|
ENSP00000507705.1:n.*2351C>T
|
|
|
ENST00000684571.1:c.3980C>T
|
ENSP00000506935.1:p.Thr1327Ile
|
|
|
ENST00000684593.1:c.*3844C>T
|
ENSP00000507005.1:n.*3844C>T
|
|
|
ENST00000684711.1:c.*2535C>T
|
ENSP00000506841.1:n.*2535C>T
|
|
|
ENST00000302539.9:c.4142C>T
|
ENSP00000303960.4:p.Thr1381Ile
|
|
|
ENST00000389817.8:c.4139C>T
MANE Select
|
ENSP00000374467.4:p.Thr1380Ile
|
|
|
ENST00000642271.1:c.4136C>T
|
ENSP00000493749.1:p.Thr1379Ile
|
|
|
ENST00000642579.1:c.2193C>T
|
|
|
|
ENST00000642611.1:n.5224C>T
|
|
|
|
ENST00000642902.1:c.3921C>T
|
|
|
|
ENST00000643260.1:c.4139C>T
|
ENSP00000494450.1:p.Thr1380Ile
|
|
|
ENST00000643562.1:c.*2261C>T
|
ENSP00000496124.1:n.*2261C>T
|
|
|
ENST00000643925.1:c.2779C>T
|
|
|
|
ENST00000644057.1:n.216C>T
|
|
|
|
ENST00000644484.1:c.*3525C>T
|
ENSP00000493558.1:n.*3525C>T
|
|
|
ENST00000644675.1:c.*2311C>T
|
ENSP00000494567.1:n.*2311C>T
|
|
|
ENST00000644757.1:c.*3202+353C>T
|
ENSP00000495085.1:n.*3202+353C>T
|
|
|
ENST00000644772.1:c.4205C>T
|
ENSP00000494321.1:p.Thr1402Ile
|
|
|
ENST00000645004.1:n.1832C>T
|
|
|
|
ENST00000645076.1:c.3338C>T
|
|
|
|
ENST00000645417.1:c.1327C>T
|
|
|
|
ENST00000645744.1:c.*3904C>T
|
ENSP00000494564.1:n.*3904C>T
|
|
|
ENST00000645760.1:c.4560C>T
|
|
|
|
ENST00000645884.1:c.*1422C>T
|
ENSP00000495516.1:n.*1422C>T
|
|
|
ENST00000646003.1:c.*2241C>T
|
ENSP00000495259.1:n.*2241C>T
|
|
|
ENST00000646207.1:c.*2976C>T
|
ENSP00000495025.1:n.*2976C>T
|
|
|
ENST00000646276.1:c.*3543C>T
|
ENSP00000496070.1:n.*3543C>T
|
|
|
ENST00000646592.1:c.3445C>T
|
|
|
|
ENST00000646902.1:c.4106C>T
|
ENSP00000494101.1:p.Thr1369Ile
|
|
|
ENST00000646993.1:c.*2681C>T
|
ENSP00000493720.1:n.*2681C>T
|
|
|
ENST00000647013.1:c.4145C>T
|
ENSP00000496741.1:n.4145C>T
|
|
|
ENST00000647015.1:c.3890C>T
|
ENSP00000495389.1:p.Thr1297Ile
|
|
|
ENST00000647086.1:c.*3725C>T
|
ENSP00000493677.1:n.*3725C>T
|
|
|
ENST00000647158.1:c.*2426C>T
|
ENSP00000495744.1:n.*2426C>T
|
|
|
ENST00000302539.8:c.4142C>T
|
ENSP00000303960.4:p.Thr1381Ile
|
|
|
ENST00000389817.7:c.4139C>T
|
ENSP00000374467.3:p.Thr1380Ile
|
|
|
ENST00000525022.1:n.5C>T
|
|
|
|
ENST00000526168.5:c.7C>T
|
|
|
|
NM_000352.4:c.4139C>T
|
NP_000343.2:p.Thr1380Ile
|
|
|
NM_001287174.1:c.4142C>T
|
NP_001274103.1:p.Thr1381Ile
|
|
|
XM_011520331.1:c.4139C>T
|
XP_011518633.1:p.Thr1380Ile
|
|
|
XM_011520332.1:c.4142C>T
|
XP_011518634.1:p.Thr1381Ile
|
|
|
XM_011520333.1:c.2639C>T
|
XP_011518635.1:p.Thr880Ile
|
|
|
XR_930890.1:n.4205C>T
|
|
|
|
NM_001351295.1:c.4205C>T
|
NP_001338224.1:p.Thr1402Ile
|
|
|
NM_001351296.1:c.4139C>T
|
NP_001338225.1:p.Thr1380Ile
|
|
|
NM_001351297.1:c.4136C>T
|
NP_001338226.1:p.Thr1379Ile
|
|
|
NR_147094.1:n.4434C>T
|
|
|
|
XM_017018197.2:c.4208C>T
|
XP_016873686.1:p.Thr1403Ile
|
|
|
XM_017018199.1:c.4205C>T
|
XP_016873688.1:p.Thr1402Ile
|
|
|
XM_017018201.2:c.4208C>T
|
XP_016873690.1:p.Thr1403Ile
|
|
|
XM_017018202.1:c.2705C>T
|
XP_016873691.1:p.Thr902Ile
|
|
|
XM_017018204.1:c.2096C>T
|
XP_016873693.1:p.Thr699Ile
|
|
|
XM_024448668.1:c.2507C>T
|
XP_024304436.1:p.Thr836Ile
|
|
|
XR_001747945.2:n.4280C>T
|
|
|
|
XR_001747946.2:n.4211C>T
|
|
|
|
XR_002957189.1:n.5861C>T
|
|
|
|
NM_000352.6:c.4139C>T
MANE Select
|
NP_000343.2:p.Thr1380Ile
|
|
|
NM_001287174.2:c.4142C>T
|
NP_001274103.1:p.Thr1381Ile
|
|
|
NM_001351295.2:c.4205C>T
|
NP_001338224.1:p.Thr1402Ile
|
|
|
NM_001351296.2:c.4139C>T
|
NP_001338225.1:p.Thr1380Ile
|
|
|
NM_001351297.2:c.4136C>T
|
NP_001338226.1:p.Thr1379Ile
|
|
|
NR_147094.2:n.4434C>T
|
|
|
|
NM_001287174.3:c.4142C>T
|
NP_001274103.1:p.Thr1381Ile
|
|
