|
ENST00000524561.2:n.3732C>G
|
|
|
|
ENST00000528374.2:c.722C>G
|
|
|
|
ENST00000529967.6:n.2470C>G
|
|
|
|
ENST00000532220.2:n.3364C>G
|
|
|
|
ENST00000642611.2:n.5331C>G
|
|
|
|
ENST00000644057.2:n.574C>G
|
|
|
|
ENST00000645004.2:n.1630C>G
|
|
|
|
ENST00000682051.1:n.4293C>G
|
|
|
|
ENST00000682110.1:n.4346C>G
|
|
|
|
ENST00000682140.1:c.3997C>G
|
ENSP00000507829.1:p.Arg1333Gly
|
|
|
ENST00000682185.1:n.5436C>G
|
|
|
|
ENST00000682204.1:c.*2269C>G
|
ENSP00000507094.1:n.*2269C>G
|
|
|
ENST00000682215.1:n.4713C>G
|
|
|
|
ENST00000682288.1:c.*2562C>G
|
ENSP00000507506.1:n.*2562C>G
|
|
|
ENST00000682442.1:n.4566C>G
|
|
|
|
ENST00000682528.1:n.4423C>G
|
|
|
|
ENST00000682673.1:n.4290C>G
|
|
|
|
ENST00000682805.1:n.4751C>G
|
|
|
|
ENST00000682965.1:c.*553C>G
|
ENSP00000508229.1:n.*553C>G
|
|
|
ENST00000683093.1:n.5430C>G
|
|
|
|
ENST00000683136.1:c.4014C>G
|
ENSP00000507768.1:p.Cys1338Trp
|
|
|
ENST00000683153.1:n.4388C>G
|
|
|
|
ENST00000683365.1:n.4448C>G
|
|
|
|
ENST00000683377.1:n.4346C>G
|
|
|
|
ENST00000683456.1:c.*1268C>G
|
ENSP00000508318.1:n.*1268C>G
|
|
|
ENST00000683522.1:n.4346C>G
|
|
|
|
ENST00000683562.1:c.*2300C>G
|
ENSP00000508265.1:n.*2300C>G
|
|
|
ENST00000683693.1:n.5778C>G
|
|
|
|
ENST00000683725.1:c.4131C>G
|
ENSP00000507496.1:p.Cys1377Trp
|
|
|
ENST00000684010.1:n.4341C>G
|
|
|
|
ENST00000684157.1:n.5331C>G
|
|
|
|
ENST00000684253.1:n.4249C>G
|
|
|
|
ENST00000684288.1:c.*2303C>G
|
ENSP00000507143.1:n.*2303C>G
|
|
|
ENST00000684313.1:n.3778C>G
|
|
|
|
ENST00000684332.1:n.4419C>G
|
|
|
|
ENST00000684371.1:n.4452C>G
|
|
|
|
ENST00000684404.1:n.5374C>G
|
|
|
|
ENST00000684442.1:n.4570C>G
|
|
|
|
ENST00000684555.1:c.*2343C>G
|
ENSP00000507705.1:n.*2343C>G
|
|
|
ENST00000684571.1:c.3972C>G
|
ENSP00000506935.1:p.Cys1324Trp
|
|
|
ENST00000684593.1:c.*3836C>G
|
ENSP00000507005.1:n.*3836C>G
|
|
|
ENST00000684711.1:c.*2527C>G
|
ENSP00000506841.1:n.*2527C>G
|
|
|
ENST00000302539.9:c.4134C>G
|
ENSP00000303960.4:p.Cys1378Trp
|
|
|
ENST00000389817.8:c.4131C>G
MANE Select
|
ENSP00000374467.4:p.Cys1377Trp
|
|
|
ENST00000642271.1:c.4128C>G
|
ENSP00000493749.1:p.Cys1376Trp
|
|
|
ENST00000642579.1:c.2185C>G
|
|
|
|
ENST00000642611.1:n.5216C>G
|
|
|
|
ENST00000642902.1:c.3913C>G
|
|
|
|
ENST00000643260.1:c.4131C>G
|
ENSP00000494450.1:p.Cys1377Trp
|
|
|
ENST00000643562.1:c.*2253C>G
|
ENSP00000496124.1:n.*2253C>G
|
|
|
ENST00000643925.1:c.2771C>G
|
|
|
|
ENST00000644057.1:n.208C>G
|
|
|
|
ENST00000644484.1:c.*3517C>G
|
ENSP00000493558.1:n.*3517C>G
|
|
|
ENST00000644675.1:c.*2303C>G
|
ENSP00000494567.1:n.*2303C>G
|
|
|
ENST00000644757.1:c.*3202+345C>G
|
ENSP00000495085.1:n.*3202+345C>G
|
|
|
ENST00000644772.1:c.4197C>G
|
ENSP00000494321.1:p.Cys1399Trp
|
|
|
ENST00000645004.1:n.1824C>G
|
|
|
|
ENST00000645076.1:c.3330C>G
|
|
|
|
ENST00000645417.1:c.1319C>G
|
|
|
|
ENST00000645744.1:c.*3896C>G
|
ENSP00000494564.1:n.*3896C>G
|
|
|
ENST00000645760.1:c.4552C>G
|
|
|
|
ENST00000645884.1:c.*1414C>G
|
ENSP00000495516.1:n.*1414C>G
|
|
|
ENST00000646003.1:c.*2233C>G
|
ENSP00000495259.1:n.*2233C>G
|
|
|
ENST00000646207.1:c.*2968C>G
|
ENSP00000495025.1:n.*2968C>G
|
|
|
ENST00000646276.1:c.*3535C>G
|
ENSP00000496070.1:n.*3535C>G
|
|
|
ENST00000646592.1:c.3437C>G
|
|
|
|
ENST00000646902.1:c.4098C>G
|
ENSP00000494101.1:p.Cys1366Trp
|
|
|
ENST00000646993.1:c.*2673C>G
|
ENSP00000493720.1:n.*2673C>G
|
|
|
ENST00000647013.1:c.4137C>G
|
ENSP00000496741.1:n.4137C>G
|
|
|
ENST00000647015.1:c.3882C>G
|
ENSP00000495389.1:p.Cys1294Trp
|
|
|
ENST00000647086.1:c.*3717C>G
|
ENSP00000493677.1:n.*3717C>G
|
|
|
ENST00000647158.1:c.*2418C>G
|
ENSP00000495744.1:n.*2418C>G
|
|
|
ENST00000302539.8:c.4134C>G
|
ENSP00000303960.4:p.Cys1378Trp
|
|
|
ENST00000389817.7:c.4131C>G
|
ENSP00000374467.3:p.Cys1377Trp
|
|
|
ENST00000532220.1:n.605C>G
|
|
|
|
NM_000352.4:c.4131C>G
|
NP_000343.2:p.Cys1377Trp
|
|
|
NM_001287174.1:c.4134C>G
|
NP_001274103.1:p.Cys1378Trp
|
|
|
XM_011520331.1:c.4131C>G
|
XP_011518633.1:p.Cys1377Trp
|
|
|
XM_011520332.1:c.4134C>G
|
XP_011518634.1:p.Cys1378Trp
|
|
|
XM_011520333.1:c.2631C>G
|
XP_011518635.1:p.Cys877Trp
|
|
|
XR_930890.1:n.4197C>G
|
|
|
|
NM_001351295.1:c.4197C>G
|
NP_001338224.1:p.Cys1399Trp
|
|
|
NM_001351296.1:c.4131C>G
|
NP_001338225.1:p.Cys1377Trp
|
|
|
NM_001351297.1:c.4128C>G
|
NP_001338226.1:p.Cys1376Trp
|
|
|
NR_147094.1:n.4426C>G
|
|
|
|
XM_017018197.2:c.4200C>G
|
XP_016873686.1:p.Cys1400Trp
|
|
|
XM_017018199.1:c.4197C>G
|
XP_016873688.1:p.Cys1399Trp
|
|
|
XM_017018201.2:c.4200C>G
|
XP_016873690.1:p.Cys1400Trp
|
|
|
XM_017018202.1:c.2697C>G
|
XP_016873691.1:p.Cys899Trp
|
|
|
XM_017018204.1:c.2088C>G
|
XP_016873693.1:p.Cys696Trp
|
|
|
XM_024448668.1:c.2499C>G
|
XP_024304436.1:p.Cys833Trp
|
|
|
XR_001747945.2:n.4272C>G
|
|
|
|
XR_001747946.2:n.4203C>G
|
|
|
|
XR_002957189.1:n.5853C>G
|
|
|
|
NM_000352.6:c.4131C>G
MANE Select
|
NP_000343.2:p.Cys1377Trp
|
|
|
NM_001287174.2:c.4134C>G
|
NP_001274103.1:p.Cys1378Trp
|
|
|
NM_001351295.2:c.4197C>G
|
NP_001338224.1:p.Cys1399Trp
|
|
|
NM_001351296.2:c.4131C>G
|
NP_001338225.1:p.Cys1377Trp
|
|
|
NM_001351297.2:c.4128C>G
|
NP_001338226.1:p.Cys1376Trp
|
|
|
NR_147094.2:n.4426C>G
|
|
|
|
NM_001287174.3:c.4134C>G
|
NP_001274103.1:p.Cys1378Trp
|
|
