|
NM_000352.6:c.4482C>T
MANE Select
|
NP_000343.2:p.Ala1494=
|
|
ENST00000389817.8:c.4482C>T
MANE Select
|
ENSP00000374467.4:p.Ala1494=
|
|
NM_000352.4:c.4482C>T
|
NP_000343.2:p.Ala1494=
|
|
NM_001287174.1:c.4485C>T
|
NP_001274103.1:p.Ala1495=
|
|
NM_001287174.2:c.4485C>T
|
NP_001274103.1:p.Ala1495=
|
|
NM_001287174.3:c.4485C>T
|
NP_001274103.1:p.Ala1495=
|
|
NM_001351295.1:c.4548C>T
|
NP_001338224.1:p.Ala1516=
|
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NM_001351295.2:c.4548C>T
|
NP_001338224.1:p.Ala1516=
|
|
NM_001351296.1:c.4482C>T
|
NP_001338225.1:p.Ala1494=
|
|
NM_001351296.2:c.4482C>T
|
NP_001338225.1:p.Ala1494=
|
|
NM_001351297.1:c.4479C>T
|
NP_001338226.1:p.Ala1493=
|
|
NM_001351297.2:c.4479C>T
|
NP_001338226.1:p.Ala1493=
|
|
NR_147094.1:n.4777C>T
|
|
|
NR_147094.2:n.4777C>T
|
|
|
ENST00000302539.8:c.4485C>T
|
ENSP00000303960.4:p.Ala1495=
|
|
ENST00000302539.9:c.4485C>T
|
ENSP00000303960.4:p.Ala1495=
|
|
ENST00000389817.7:c.4482C>T
|
ENSP00000374467.3:p.Ala1494=
|
|
ENST00000524561.2:n.4083C>T
|
|
|
ENST00000525022.1:n.377C>T
|
|
|
ENST00000526037.5:n.242C>T
|
|
|
ENST00000526037.6:n.417C>T
|
|
|
ENST00000526168.5:c.270C>T
|
|
|
ENST00000528374.2:c.1073C>T
|
|
|
ENST00000529967.6:n.2821C>T
|
|
|
ENST00000531642.5:c.513C>T
|
|
|
ENST00000532220.2:n.3715C>T
|
|
|
ENST00000642271.1:c.4479C>T
|
ENSP00000493749.1:p.Ala1493=
|
|
ENST00000642579.1:c.2536C>T
|
|
|
ENST00000642611.1:n.5700C>T
|
|
|
ENST00000642611.2:n.5815C>T
|
|
|
ENST00000642902.1:c.4264C>T
|
|
|
ENST00000643260.1:c.4482C>T
|
ENSP00000494450.1:p.Ala1494=
|
|
ENST00000643562.1:c.*2604C>T
|
ENSP00000496124.1:n.*2604C>T
|
|
ENST00000643925.1:c.3122C>T
|
|
|
ENST00000644057.1:n.641C>T
|
|
|
ENST00000644057.2:n.1058C>T
|
|
|
ENST00000644484.1:c.*3868C>T
|
ENSP00000493558.1:n.*3868C>T
|
|
ENST00000644675.1:c.*2654C>T
|
ENSP00000494567.1:n.*2654C>T
|
|
ENST00000644757.1:c.*3203-1349C>T
|
ENSP00000495085.1:n.*3203-1349C>T
|
|
ENST00000644772.1:c.4548C>T
|
ENSP00000494321.1:p.Ala1516=
|
|
ENST00000645004.1:n.2175C>T
|
|
|
ENST00000645004.2:n.1981C>T
|
|
|
ENST00000645076.1:c.3577C>T
|
|
|
ENST00000645417.1:c.1670C>T
|
|
|
ENST00000645744.1:c.*4167C>T
|
ENSP00000494564.1:n.*4167C>T
|
|
ENST00000645760.1:c.4903C>T
|
|
|
ENST00000645884.1:c.*1765C>T
|
ENSP00000495516.1:n.*1765C>T
|
|
ENST00000646003.1:c.*2504C>T
|
ENSP00000495259.1:n.*2504C>T
|
|
ENST00000646207.1:c.*3319C>T
|
ENSP00000495025.1:n.*3319C>T
|
|
ENST00000646276.1:c.*3886C>T
|
ENSP00000496070.1:n.*3886C>T
|
|
ENST00000646592.1:c.3788C>T
|
|
|
ENST00000646902.1:c.4449C>T
|
ENSP00000494101.1:p.Ala1483=
|
|
ENST00000646993.1:c.*2920C>T
|
ENSP00000493720.1:n.*2920C>T
|
|
ENST00000647013.1:c.4488C>T
|
ENSP00000496741.1:n.4488C>T
|
|
ENST00000647015.1:c.4233C>T
|
ENSP00000495389.1:p.Ala1411=
|
|
ENST00000647086.1:c.*4068C>T
|
ENSP00000493677.1:n.*4068C>T
|
|
ENST00000647158.1:c.*2769C>T
|
ENSP00000495744.1:n.*2769C>T
|
|
ENST00000682051.1:n.4644C>T
|
|
|
ENST00000682110.1:n.4697C>T
|
|
|
ENST00000682140.1:c.*268C>T
|
ENSP00000507829.1:n.*268C>T
|
|
ENST00000682185.1:n.5787C>T
|
|
|
ENST00000682204.1:c.*2620C>T
|
ENSP00000507094.1:n.*2620C>T
|
|
ENST00000682215.1:n.5064C>T
|
|
|
ENST00000682288.1:c.*2913C>T
|
ENSP00000507506.1:n.*2913C>T
|
|
ENST00000682442.1:n.4917C>T
|
|
|
ENST00000682528.1:n.4774C>T
|
|
|
ENST00000682673.1:n.4641C>T
|
|
|
ENST00000682805.1:n.5102C>T
|
|
|
ENST00000682965.1:c.*904C>T
|
ENSP00000508229.1:n.*904C>T
|
|
ENST00000683093.1:n.5677C>T
|
|
|
ENST00000683136.1:c.4365C>T
|
ENSP00000507768.1:p.Ala1455=
|
|
ENST00000683153.1:n.4739C>T
|
|
|
ENST00000683365.1:n.4799C>T
|
|
|
ENST00000683377.1:n.4593C>T
|
|
|
ENST00000683456.1:c.*1619C>T
|
ENSP00000508318.1:n.*1619C>T
|
|
ENST00000683522.1:n.4779C>T
|
|
|
ENST00000683562.1:c.*2547C>T
|
ENSP00000508265.1:n.*2547C>T
|
|
ENST00000683693.1:n.6158C>T
|
|
|
ENST00000683725.1:c.4378C>T
|
ENSP00000507496.1:p.Leu1460Phe
|
|
ENST00000684010.1:n.4692C>T
|
|
|
ENST00000684014.1:n.669C>T
|
|
|
ENST00000684157.1:n.5682C>T
|
|
|
ENST00000684253.1:n.4600C>T
|
|
|
ENST00000684288.1:c.*2654C>T
|
ENSP00000507143.1:n.*2654C>T
|
|
ENST00000684313.1:n.4129C>T
|
|
|
ENST00000684332.1:n.4770C>T
|
|
|
ENST00000684371.1:n.4803C>T
|
|
|
ENST00000684404.1:n.5725C>T
|
|
|
ENST00000684442.1:n.4921C>T
|
|
|
ENST00000684555.1:c.*2694C>T
|
ENSP00000507705.1:n.*2694C>T
|
|
ENST00000684571.1:c.4323C>T
|
ENSP00000506935.1:p.Ala1441=
|
|
ENST00000684593.1:c.*4187C>T
|
ENSP00000507005.1:n.*4187C>T
|
|
ENST00000684711.1:c.*2878C>T
|
ENSP00000506841.1:n.*2878C>T
|
|
XM_011520331.1:c.4482C>T
|
XP_011518633.1:p.Ala1494=
|
|
XM_011520332.1:c.4381C>T
|
XP_011518634.1:p.Leu1461Phe
|
|
XM_011520333.1:c.2982C>T
|
XP_011518635.1:p.Ala994=
|
|
XM_017018197.2:c.4551C>T
|
XP_016873686.1:p.Ala1517=
|
|
XM_017018199.1:c.4548C>T
|
XP_016873688.1:p.Ala1516=
|
|
XM_017018201.2:c.4447C>T
|
XP_016873690.1:p.Leu1483Phe
|
|
XM_017018202.1:c.3048C>T
|
XP_016873691.1:p.Ala1016=
|
|
XM_017018204.1:c.2439C>T
|
XP_016873693.1:p.Ala813=
|
|
XM_024448668.1:c.2850C>T
|
XP_024304436.1:p.Ala950=
|
|
XR_001747945.2:n.4519C>T
|
|
|
XR_001747946.2:n.4450C>T
|
|
|
XR_002957189.1:n.6233C>T
|
|
|
XR_930890.1:n.4444C>T
|
|
