|
ENST00000524561.2:n.4048C>G
|
|
|
|
ENST00000526037.6:n.382C>G
|
|
|
|
ENST00000528374.2:c.1038C>G
|
|
|
|
ENST00000529967.6:n.2786C>G
|
|
|
|
ENST00000532220.2:n.3680C>G
|
|
|
|
ENST00000642611.2:n.5780C>G
|
|
|
|
ENST00000644057.2:n.1023C>G
|
|
|
|
ENST00000645004.2:n.1946C>G
|
|
|
|
ENST00000682051.1:n.4609C>G
|
|
|
|
ENST00000682110.1:n.4662C>G
|
|
|
|
ENST00000682140.1:c.*233C>G
|
ENSP00000507829.1:n.*233C>G
|
|
|
ENST00000682185.1:n.5752C>G
|
|
|
|
ENST00000682204.1:c.*2585C>G
|
ENSP00000507094.1:n.*2585C>G
|
|
|
ENST00000682215.1:n.5029C>G
|
|
|
|
ENST00000682288.1:c.*2878C>G
|
ENSP00000507506.1:n.*2878C>G
|
|
|
ENST00000682442.1:n.4882C>G
|
|
|
|
ENST00000682528.1:n.4739C>G
|
|
|
|
ENST00000682673.1:n.4606C>G
|
|
|
|
ENST00000682805.1:n.5067C>G
|
|
|
|
ENST00000682965.1:c.*869C>G
|
ENSP00000508229.1:n.*869C>G
|
|
|
ENST00000683093.1:n.5642C>G
|
|
|
|
ENST00000683136.1:c.4330C>G
|
ENSP00000507768.1:p.Gln1444Glu
|
|
|
ENST00000683153.1:n.4704C>G
|
|
|
|
ENST00000683365.1:n.4764C>G
|
|
|
|
ENST00000683377.1:n.4558C>G
|
|
|
|
ENST00000683456.1:c.*1584C>G
|
ENSP00000508318.1:n.*1584C>G
|
|
|
ENST00000683522.1:n.4744C>G
|
|
|
|
ENST00000683562.1:c.*2512C>G
|
ENSP00000508265.1:n.*2512C>G
|
|
|
ENST00000683693.1:n.6123C>G
|
|
|
|
ENST00000683725.1:c.4343C>G
|
ENSP00000507496.1:p.Pro1448Arg
|
|
|
ENST00000684010.1:n.4657C>G
|
|
|
|
ENST00000684014.1:n.634C>G
|
|
|
|
ENST00000684157.1:n.5647C>G
|
|
|
|
ENST00000684253.1:n.4565C>G
|
|
|
|
ENST00000684288.1:c.*2619C>G
|
ENSP00000507143.1:n.*2619C>G
|
|
|
ENST00000684313.1:n.4094C>G
|
|
|
|
ENST00000684332.1:n.4735C>G
|
|
|
|
ENST00000684371.1:n.4768C>G
|
|
|
|
ENST00000684404.1:n.5690C>G
|
|
|
|
ENST00000684442.1:n.4886C>G
|
|
|
|
ENST00000684555.1:c.*2659C>G
|
ENSP00000507705.1:n.*2659C>G
|
|
|
ENST00000684571.1:c.4288C>G
|
ENSP00000506935.1:p.Gln1430Glu
|
|
|
ENST00000684593.1:c.*4152C>G
|
ENSP00000507005.1:n.*4152C>G
|
|
|
ENST00000684711.1:c.*2843C>G
|
ENSP00000506841.1:n.*2843C>G
|
|
|
ENST00000302539.9:c.4450C>G
|
ENSP00000303960.4:p.Gln1484Glu
|
|
|
ENST00000389817.8:c.4447C>G
MANE Select
|
ENSP00000374467.4:p.Gln1483Glu
|
|
|
ENST00000642271.1:c.4444C>G
|
ENSP00000493749.1:p.Gln1482Glu
|
|
|
ENST00000642579.1:c.2501C>G
|
|
|
|
ENST00000642611.1:n.5665C>G
|
|
|
|
ENST00000642902.1:c.4229C>G
|
|
|
|
ENST00000643260.1:c.4447C>G
|
ENSP00000494450.1:p.Gln1483Glu
|
|
|
ENST00000643562.1:c.*2569C>G
|
ENSP00000496124.1:n.*2569C>G
|
|
|
ENST00000643925.1:c.3087C>G
|
|
|
|
ENST00000644057.1:n.606C>G
|
|
|
|
ENST00000644484.1:c.*3833C>G
|
ENSP00000493558.1:n.*3833C>G
|
|
|
ENST00000644675.1:c.*2619C>G
|
ENSP00000494567.1:n.*2619C>G
|
|
|
ENST00000644757.1:c.*3203-1384C>G
|
ENSP00000495085.1:n.*3203-1384C>G
|
|
|
ENST00000644772.1:c.4513C>G
|
ENSP00000494321.1:p.Gln1505Glu
|
|
|
ENST00000645004.1:n.2140C>G
|
|
|
|
ENST00000645076.1:c.3542C>G
|
|
|
|
ENST00000645417.1:c.1635C>G
|
|
|
|
ENST00000645744.1:c.*4132C>G
|
ENSP00000494564.1:n.*4132C>G
|
|
|
ENST00000645760.1:c.4868C>G
|
|
|
|
ENST00000645884.1:c.*1730C>G
|
ENSP00000495516.1:n.*1730C>G
|
|
|
ENST00000646003.1:c.*2469C>G
|
ENSP00000495259.1:n.*2469C>G
|
|
|
ENST00000646207.1:c.*3284C>G
|
ENSP00000495025.1:n.*3284C>G
|
|
|
ENST00000646276.1:c.*3851C>G
|
ENSP00000496070.1:n.*3851C>G
|
|
|
ENST00000646592.1:c.3753C>G
|
|
|
|
ENST00000646902.1:c.4414C>G
|
ENSP00000494101.1:p.Gln1472Glu
|
|
|
ENST00000646993.1:c.*2885C>G
|
ENSP00000493720.1:n.*2885C>G
|
|
|
ENST00000647013.1:c.4453C>G
|
ENSP00000496741.1:n.4453C>G
|
|
|
ENST00000647015.1:c.4198C>G
|
ENSP00000495389.1:p.Gln1400Glu
|
|
|
ENST00000647086.1:c.*4033C>G
|
ENSP00000493677.1:n.*4033C>G
|
|
|
ENST00000647158.1:c.*2734C>G
|
ENSP00000495744.1:n.*2734C>G
|
|
|
ENST00000302539.8:c.4450C>G
|
ENSP00000303960.4:p.Gln1484Glu
|
|
|
ENST00000389817.7:c.4447C>G
|
ENSP00000374467.3:p.Gln1483Glu
|
|
|
ENST00000525022.1:n.342C>G
|
|
|
|
ENST00000526037.5:n.207C>G
|
|
|
|
ENST00000526168.5:c.235C>G
|
|
|
|
ENST00000531642.5:c.478C>G
|
|
|
|
NM_000352.4:c.4447C>G
|
NP_000343.2:p.Gln1483Glu
|
|
|
NM_001287174.1:c.4450C>G
|
NP_001274103.1:p.Gln1484Glu
|
|
|
XM_011520331.1:c.4447C>G
|
XP_011518633.1:p.Gln1483Glu
|
|
|
XM_011520332.1:c.4346C>G
|
XP_011518634.1:p.Pro1449Arg
|
|
|
XM_011520333.1:c.2947C>G
|
XP_011518635.1:p.Gln983Glu
|
|
|
XR_930890.1:n.4409C>G
|
|
|
|
NM_001351295.1:c.4513C>G
|
NP_001338224.1:p.Gln1505Glu
|
|
|
NM_001351296.1:c.4447C>G
|
NP_001338225.1:p.Gln1483Glu
|
|
|
NM_001351297.1:c.4444C>G
|
NP_001338226.1:p.Gln1482Glu
|
|
|
NR_147094.1:n.4742C>G
|
|
|
|
XM_017018197.2:c.4516C>G
|
XP_016873686.1:p.Gln1506Glu
|
|
|
XM_017018199.1:c.4513C>G
|
XP_016873688.1:p.Gln1505Glu
|
|
|
XM_017018201.2:c.4412C>G
|
XP_016873690.1:p.Pro1471Arg
|
|
|
XM_017018202.1:c.3013C>G
|
XP_016873691.1:p.Gln1005Glu
|
|
|
XM_017018204.1:c.2404C>G
|
XP_016873693.1:p.Gln802Glu
|
|
|
XM_024448668.1:c.2815C>G
|
XP_024304436.1:p.Gln939Glu
|
|
|
XR_001747945.2:n.4484C>G
|
|
|
|
XR_001747946.2:n.4415C>G
|
|
|
|
XR_002957189.1:n.6198C>G
|
|
|
|
NM_000352.6:c.4447C>G
MANE Select
|
NP_000343.2:p.Gln1483Glu
|
|
|
NM_001287174.2:c.4450C>G
|
NP_001274103.1:p.Gln1484Glu
|
|
|
NM_001351295.2:c.4513C>G
|
NP_001338224.1:p.Gln1505Glu
|
|
|
NM_001351296.2:c.4447C>G
|
NP_001338225.1:p.Gln1483Glu
|
|
|
NM_001351297.2:c.4444C>G
|
NP_001338226.1:p.Gln1482Glu
|
|
|
NR_147094.2:n.4742C>G
|
|
|
|
NM_001287174.3:c.4450C>G
|
NP_001274103.1:p.Gln1484Glu
|
|
