|
ENST00000561877.2:c.2003C>G
|
ENSP00000454986.2:n.2003C>G
|
|
|
ENST00000562813.2:n.3503C>G
|
|
|
|
ENST00000564123.7:n.861C>G
|
|
|
|
ENST00000564459.6:n.743C>G
|
|
|
|
ENST00000565781.6:n.5547C>G
|
|
|
|
ENST00000565859.2:n.3090C>G
|
|
|
|
ENST00000566210.2:n.2445C>G
|
|
|
|
ENST00000566410.2:n.5530C>G
|
|
|
|
ENST00000566452.2:n.3139C>G
|
|
|
|
ENST00000568104.6:c.1878C>G
|
ENSP00000456289.1:p.Leu626=
|
|
|
ENST00000569192.6:n.1121C>G
|
|
|
|
ENST00000618027.2:n.795C>G
|
|
|
|
ENST00000682000.1:n.1574C>G
|
|
|
|
ENST00000682001.1:n.3045C>G
|
|
|
|
ENST00000682038.1:c.*1405C>G
|
ENSP00000508404.1:n.*1405C>G
|
|
|
ENST00000682047.1:c.2016C>G
|
ENSP00000507699.1:p.Leu672=
|
|
|
ENST00000682088.1:c.*4957C>G
|
ENSP00000508064.1:n.*4957C>G
|
|
|
ENST00000682096.1:n.4466C>G
|
|
|
|
ENST00000682113.1:n.4233C>G
|
|
|
|
ENST00000682146.1:n.3173C>G
|
|
|
|
ENST00000682187.1:c.*1440C>G
|
ENSP00000507203.1:n.*1440C>G
|
|
|
ENST00000682188.1:c.2061C>G
|
ENSP00000507655.1:p.Leu687=
|
|
|
ENST00000682201.1:n.2007C>G
|
|
|
|
ENST00000682205.1:c.2016C>G
|
ENSP00000508377.1:p.Leu672=
|
|
|
ENST00000682348.1:c.*1065C>G
|
ENSP00000506965.1:n.*1065C>G
|
|
|
ENST00000682360.1:c.1419C>G
|
ENSP00000508007.1:p.Leu473=
|
|
|
ENST00000682370.1:n.3382C>G
|
|
|
|
ENST00000682420.1:n.2563C>G
|
|
|
|
ENST00000682429.1:c.*685C>G
|
ENSP00000506827.1:n.*685C>G
|
|
|
ENST00000682449.1:c.*767C>G
|
ENSP00000507836.1:n.*767C>G
|
|
|
ENST00000682470.1:c.2016C>G
|
ENSP00000507654.1:p.Leu672=
|
|
|
ENST00000682473.1:n.1981C>G
|
|
|
|
ENST00000682482.1:c.1890C>G
|
ENSP00000507903.1:p.Leu630=
|
|
|
ENST00000682492.1:n.2104C>G
|
|
|
|
ENST00000682493.1:c.*611C>G
|
ENSP00000506778.1:n.*611C>G
|
|
|
ENST00000682543.1:c.*1440C>G
|
ENSP00000507592.1:n.*1440C>G
|
|
|
ENST00000682597.1:n.4203C>G
|
|
|
|
ENST00000682658.1:c.*1048C>G
|
ENSP00000507773.1:n.*1048C>G
|
|
|
ENST00000682705.1:n.3085C>G
|
|
|
|
ENST00000682723.1:c.*95C>G
|
ENSP00000507115.1:n.*95C>G
|
|
|
ENST00000682735.1:c.*3684C>G
|
ENSP00000507007.1:n.*3684C>G
|
|
|
ENST00000682737.1:c.1419C>G
|
ENSP00000506876.1:p.Leu473=
|
|
|
ENST00000682757.1:n.3709C>G
|
|
|
|
ENST00000682855.1:c.2016C>G
|
ENSP00000507027.1:p.Leu672=
|
|
|
ENST00000682875.1:c.*95C>G
|
ENSP00000507771.1:n.*95C>G
|
|
|
ENST00000682930.1:c.1941C>G
|
ENSP00000507981.1:p.Leu647=
|
|
|
ENST00000682948.1:n.3048C>G
|
|
|
|
ENST00000682960.1:n.4257C>G
|
|
|
|
ENST00000683008.1:n.5471C>G
|
|
|
|
ENST00000683020.1:c.*557C>G
|
ENSP00000507944.1:n.*557C>G
|
|
|
ENST00000683099.1:n.4045C>G
|
|
|
|
ENST00000683170.1:n.3741C>G
|
|
|
|
ENST00000683212.1:c.*557C>G
|
ENSP00000507839.1:n.*557C>G
|
|
|
ENST00000683248.1:n.3974C>G
|
|
|
|
ENST00000683343.1:n.2870C>G
|
|
|
|
ENST00000683347.1:n.2223C>G
|
|
|
|
ENST00000683384.1:c.2037C>G
|
ENSP00000508330.1:n.2037C>G
|
|
|
ENST00000683396.1:n.4793C>G
|
|
|
|
ENST00000683410.1:n.2497C>G
|
|
|
|
ENST00000683443.1:n.1650C>G
|
|
|
|
ENST00000683485.1:n.4584C>G
|
|
|
|
ENST00000683504.1:n.7607C>G
|
|
|
|
ENST00000683533.1:c.*1440C>G
|
ENSP00000508296.1:n.*1440C>G
|
|
|
ENST00000683609.1:n.4085C>G
|
|
|
|
ENST00000683644.1:c.*1190C>G
|
ENSP00000507914.1:n.*1190C>G
|
|
|
ENST00000683690.1:c.*3468C>G
|
ENSP00000508152.1:n.*3468C>G
|
|
|
ENST00000683757.1:n.2005C>G
|
|
|
|
ENST00000683858.1:c.1968C>G
|
ENSP00000507657.1:p.Leu656=
|
|
|
ENST00000683875.1:c.1788C>G
|
ENSP00000507602.1:p.Leu596=
|
|
|
ENST00000683904.1:n.4321C>G
|
|
|
|
ENST00000683910.1:n.4711C>G
|
|
|
|
ENST00000683959.1:c.*1065C>G
|
ENSP00000508309.1:n.*1065C>G
|
|
|
ENST00000683976.1:c.*1565C>G
|
ENSP00000507183.1:n.*1565C>G
|
|
|
ENST00000683978.1:n.2159C>G
|
|
|
|
ENST00000683992.1:c.*1656C>G
|
ENSP00000508144.1:n.*1656C>G
|
|
|
ENST00000684020.1:n.2438C>G
|
|
|
|
ENST00000684044.1:n.3004C>G
|
|
|
|
ENST00000684057.1:n.2934C>G
|
|
|
|
ENST00000684076.1:n.3396C>G
|
|
|
|
ENST00000684128.1:n.3584C>G
|
|
|
|
ENST00000684194.1:n.3647C>G
|
|
|
|
ENST00000684205.1:n.3695C>G
|
|
|
|
ENST00000684246.1:c.*1656C>G
|
ENSP00000508273.1:n.*1656C>G
|
|
|
ENST00000684388.1:c.936C>G
|
ENSP00000507647.1:p.Leu312=
|
|
|
ENST00000684402.1:n.3257C>G
|
|
|
|
ENST00000684446.1:n.3500C>G
|
|
|
|
ENST00000684531.1:n.3458C>G
|
|
|
|
ENST00000684635.1:c.1911C>G
|
ENSP00000507335.1:p.Leu637=
|
|
|
ENST00000684640.1:c.1978C>G
|
ENSP00000507292.1:n.1978C>G
|
|
|
ENST00000684673.1:c.*611C>G
|
ENSP00000507746.1:n.*611C>G
|
|
|
ENST00000684684.1:c.*1268C>G
|
ENSP00000507026.1:n.*1268C>G
|
|
|
ENST00000245157.11:c.2016C>G
MANE Select
|
ENSP00000245157.5:p.Leu672=
|
|
|
ENST00000245157.9:c.2016C>G
|
ENSP00000245157.5:p.Leu672=
|
|
|
ENST00000562813.1:n.3503C>G
|
|
|
|
ENST00000564123.6:c.106C>G
|
|
|
|
ENST00000564459.5:c.279C>G
|
ENSP00000463731.1:p.Leu93=
|
|
|
ENST00000565781.5:n.5547C>G
|
|
|
|
ENST00000568104.5:c.1878C>G
|
ENSP00000456289.1:p.Leu626=
|
|
|
ENST00000569192.5:n.690C>G
|
|
|
|
NM_031885.3:c.2016C>G
|
NP_114091.3:p.Leu672=
|
|
|
XM_005256080.1:c.2016C>G
|
XP_005256137.1:p.Leu672=
|
|
|
XM_005256080.2:c.2016C>G
|
XP_005256137.1:p.Leu672=
|
|
|
XR_001751958.1:n.2377C>G
|
|
|
|
XR_001751959.2:n.2374C>G
|
|
|
|
XR_001751960.1:n.2077C>G
|
|
|
|
XR_001751961.1:n.2077C>G
|
|
|
|
XR_933380.2:n.2205C>G
|
|
|
|
NM_031885.4:c.2016C>G
|
NP_114091.3:p.Leu672=
|
|
|
NM_001377456.1:c.2016C>G
|
NP_001364385.1:p.Leu672=
|
|
|
NM_031885.5:c.2016C>G
MANE Select
|
NP_114091.4:p.Leu672=
|
|
|
NR_165293.1:n.2306C>G
|
|
|
|
NR_165294.1:n.2303C>G
|
|
|
|
NR_165295.1:n.2134C>G
|
|
|
|
NR_165296.1:n.2006C>G
|
|
|
|
NR_165297.1:n.2006C>G
|
|
|
