|
ENST00000524561.2:n.3640C>A
|
|
|
|
ENST00000528374.2:c.630C>A
|
|
|
|
ENST00000529967.6:n.2378C>A
|
|
|
|
ENST00000532220.2:n.2287C>A
|
|
|
|
ENST00000642611.2:n.4254C>A
|
|
|
|
ENST00000644057.2:n.482C>A
|
|
|
|
ENST00000645004.2:n.1538C>A
|
|
|
|
ENST00000682051.1:n.4201C>A
|
|
|
|
ENST00000682110.1:n.4254C>A
|
|
|
|
ENST00000682140.1:c.3985+197C>A
|
ENSP00000507829.1:n.3985+197C>A
|
|
|
ENST00000682185.1:n.5344C>A
|
|
|
|
ENST00000682204.1:c.*2177C>A
|
ENSP00000507094.1:n.*2177C>A
|
|
|
ENST00000682215.1:n.4621C>A
|
|
|
|
ENST00000682288.1:c.*2470C>A
|
ENSP00000507506.1:n.*2470C>A
|
|
|
ENST00000682442.1:n.4474C>A
|
|
|
|
ENST00000682528.1:n.4331C>A
|
|
|
|
ENST00000682673.1:n.4198C>A
|
|
|
|
ENST00000682805.1:n.4621C>A
|
|
|
|
ENST00000682965.1:c.*461C>A
|
ENSP00000508229.1:n.*461C>A
|
|
|
ENST00000683093.1:n.4353C>A
|
|
|
|
ENST00000683136.1:c.3922C>A
|
ENSP00000507768.1:p.Gln1308Lys
|
|
|
ENST00000683153.1:n.4296C>A
|
|
|
|
ENST00000683365.1:n.4356C>A
|
|
|
|
ENST00000683377.1:n.4254C>A
|
|
|
|
ENST00000683456.1:c.*1176C>A
|
ENSP00000508318.1:n.*1176C>A
|
|
|
ENST00000683522.1:n.4254C>A
|
|
|
|
ENST00000683562.1:c.*2208C>A
|
ENSP00000508265.1:n.*2208C>A
|
|
|
ENST00000683693.1:n.4701C>A
|
|
|
|
ENST00000683725.1:c.4039C>A
|
ENSP00000507496.1:p.Gln1347Lys
|
|
|
ENST00000684010.1:n.4249C>A
|
|
|
|
ENST00000684157.1:n.4254C>A
|
|
|
|
ENST00000684253.1:n.4157C>A
|
|
|
|
ENST00000684288.1:c.*2211C>A
|
ENSP00000507143.1:n.*2211C>A
|
|
|
ENST00000684313.1:n.3686C>A
|
|
|
|
ENST00000684332.1:n.4327C>A
|
|
|
|
ENST00000684371.1:n.4360C>A
|
|
|
|
ENST00000684404.1:n.4297C>A
|
|
|
|
ENST00000684442.1:n.4478C>A
|
|
|
|
ENST00000684555.1:c.*2251C>A
|
ENSP00000507705.1:n.*2251C>A
|
|
|
ENST00000684571.1:c.3880C>A
|
ENSP00000506935.1:p.Gln1294Lys
|
|
|
ENST00000684593.1:c.*3744C>A
|
ENSP00000507005.1:n.*3744C>A
|
|
|
ENST00000684711.1:c.*2435C>A
|
ENSP00000506841.1:n.*2435C>A
|
|
|
ENST00000302539.9:c.4042C>A
|
ENSP00000303960.4:p.Gln1348Lys
|
|
|
ENST00000389817.8:c.4039C>A
MANE Select
|
ENSP00000374467.4:p.Gln1347Lys
|
|
|
ENST00000642271.1:c.4036C>A
|
ENSP00000493749.1:p.Gln1346Lys
|
|
|
ENST00000642579.1:c.2093C>A
|
|
|
|
ENST00000642611.1:n.4139C>A
|
|
|
|
ENST00000642902.1:c.3821C>A
|
|
|
|
ENST00000643260.1:c.4039C>A
|
ENSP00000494450.1:p.Gln1347Lys
|
|
|
ENST00000643562.1:c.*2161C>A
|
ENSP00000496124.1:n.*2161C>A
|
|
|
ENST00000643925.1:c.2679C>A
|
|
|
|
ENST00000644057.1:n.116C>A
|
|
|
|
ENST00000644484.1:c.*2440C>A
|
ENSP00000493558.1:n.*2440C>A
|
|
|
ENST00000644675.1:c.*2211C>A
|
ENSP00000494567.1:n.*2211C>A
|
|
|
ENST00000644757.1:c.*2470C>A
|
ENSP00000495085.1:n.*2470C>A
|
|
|
ENST00000644772.1:c.4105C>A
|
ENSP00000494321.1:p.Gln1369Lys
|
|
|
ENST00000645004.1:n.1694C>A
|
|
|
|
ENST00000645076.1:c.3238C>A
|
|
|
|
ENST00000645417.1:c.1227C>A
|
|
|
|
ENST00000645744.1:c.*2819C>A
|
ENSP00000494564.1:n.*2819C>A
|
|
|
ENST00000645760.1:c.4460C>A
|
|
|
|
ENST00000645884.1:c.*1322C>A
|
ENSP00000495516.1:n.*1322C>A
|
|
|
ENST00000646003.1:c.*2141C>A
|
ENSP00000495259.1:n.*2141C>A
|
|
|
ENST00000646207.1:c.*2876C>A
|
ENSP00000495025.1:n.*2876C>A
|
|
|
ENST00000646276.1:c.*2458C>A
|
ENSP00000496070.1:n.*2458C>A
|
|
|
ENST00000646592.1:c.3345C>A
|
|
|
|
ENST00000646902.1:c.4006C>A
|
ENSP00000494101.1:p.Gln1336Lys
|
|
|
ENST00000646993.1:c.*2581C>A
|
ENSP00000493720.1:n.*2581C>A
|
|
|
ENST00000647013.1:c.4045C>A
|
ENSP00000496741.1:n.4045C>A
|
|
|
ENST00000647015.1:c.3790C>A
|
ENSP00000495389.1:p.Gln1264Lys
|
|
|
ENST00000647086.1:c.*3625C>A
|
ENSP00000493677.1:n.*3625C>A
|
|
|
ENST00000647158.1:c.*2326C>A
|
ENSP00000495744.1:n.*2326C>A
|
|
|
ENST00000302539.8:c.4042C>A
|
ENSP00000303960.4:p.Gln1348Lys
|
|
|
ENST00000389817.7:c.4039C>A
|
ENSP00000374467.3:p.Gln1347Lys
|
|
|
ENST00000527905.5:c.*1061C>A
|
ENSP00000431653.1:n.*1061C>A
|
|
|
ENST00000528374.1:c.521C>A
|
|
|
|
ENST00000531137.1:n.604C>A
|
|
|
|
ENST00000531891.1:c.377C>A
|
|
|
|
ENST00000532220.1:n.513C>A
|
|
|
|
NM_000352.4:c.4039C>A
|
NP_000343.2:p.Gln1347Lys
|
|
|
NM_001287174.1:c.4042C>A
|
NP_001274103.1:p.Gln1348Lys
|
|
|
XM_011520331.1:c.4039C>A
|
XP_011518633.1:p.Gln1347Lys
|
|
|
XM_011520332.1:c.4042C>A
|
XP_011518634.1:p.Gln1348Lys
|
|
|
XM_011520333.1:c.2539C>A
|
XP_011518635.1:p.Gln847Lys
|
|
|
XR_930890.1:n.4105C>A
|
|
|
|
NM_001351295.1:c.4105C>A
|
NP_001338224.1:p.Gln1369Lys
|
|
|
NM_001351296.1:c.4039C>A
|
NP_001338225.1:p.Gln1347Lys
|
|
|
NM_001351297.1:c.4036C>A
|
NP_001338226.1:p.Gln1346Lys
|
|
|
NR_147094.1:n.4334C>A
|
|
|
|
XM_017018197.2:c.4108C>A
|
XP_016873686.1:p.Gln1370Lys
|
|
|
XM_017018199.1:c.4105C>A
|
XP_016873688.1:p.Gln1369Lys
|
|
|
XM_017018201.2:c.4108C>A
|
XP_016873690.1:p.Gln1370Lys
|
|
|
XM_017018202.1:c.2605C>A
|
XP_016873691.1:p.Gln869Lys
|
|
|
XM_017018204.1:c.1996C>A
|
XP_016873693.1:p.Gln666Lys
|
|
|
XM_024448668.1:c.2407C>A
|
XP_024304436.1:p.Gln803Lys
|
|
|
XR_001747945.2:n.4180C>A
|
|
|
|
XR_001747946.2:n.4111C>A
|
|
|
|
XR_002957189.1:n.4776C>A
|
|
|
|
NM_000352.6:c.4039C>A
MANE Select
|
NP_000343.2:p.Gln1347Lys
|
|
|
NM_001287174.2:c.4042C>A
|
NP_001274103.1:p.Gln1348Lys
|
|
|
NM_001351295.2:c.4105C>A
|
NP_001338224.1:p.Gln1369Lys
|
|
|
NM_001351296.2:c.4039C>A
|
NP_001338225.1:p.Gln1347Lys
|
|
|
NM_001351297.2:c.4036C>A
|
NP_001338226.1:p.Gln1346Lys
|
|
|
NR_147094.2:n.4334C>A
|
|
|
|
NM_001287174.3:c.4042C>A
|
NP_001274103.1:p.Gln1348Lys
|
|
