|
ENST00000561877.2:c.2066G>A
|
ENSP00000454986.2:n.2066G>A
|
|
|
ENST00000562813.2:n.3566G>A
|
|
|
|
ENST00000564123.7:n.924G>A
|
|
|
|
ENST00000564459.6:n.806G>A
|
|
|
|
ENST00000565781.6:n.5610G>A
|
|
|
|
ENST00000565859.2:n.3153G>A
|
|
|
|
ENST00000566210.2:n.2508G>A
|
|
|
|
ENST00000566410.2:n.5593G>A
|
|
|
|
ENST00000566452.2:n.3202G>A
|
|
|
|
ENST00000568104.6:c.1941G>A
|
ENSP00000456289.1:p.Gln647=
|
|
|
ENST00000569192.6:n.1184G>A
|
|
|
|
ENST00000618027.2:n.858G>A
|
|
|
|
ENST00000682000.1:n.1637G>A
|
|
|
|
ENST00000682001.1:n.3108G>A
|
|
|
|
ENST00000682038.1:c.*1468G>A
|
ENSP00000508404.1:n.*1468G>A
|
|
|
ENST00000682047.1:c.2079G>A
|
ENSP00000507699.1:p.Gln693=
|
|
|
ENST00000682088.1:c.*5020G>A
|
ENSP00000508064.1:n.*5020G>A
|
|
|
ENST00000682096.1:n.4529G>A
|
|
|
|
ENST00000682113.1:n.4296G>A
|
|
|
|
ENST00000682146.1:n.3236G>A
|
|
|
|
ENST00000682187.1:c.*1503G>A
|
ENSP00000507203.1:n.*1503G>A
|
|
|
ENST00000682188.1:c.2124G>A
|
ENSP00000507655.1:p.Gln708=
|
|
|
ENST00000682201.1:n.2070G>A
|
|
|
|
ENST00000682205.1:c.2079G>A
|
ENSP00000508377.1:p.Gln693=
|
|
|
ENST00000682348.1:c.*1128G>A
|
ENSP00000506965.1:n.*1128G>A
|
|
|
ENST00000682360.1:c.1482G>A
|
ENSP00000508007.1:p.Gln494=
|
|
|
ENST00000682370.1:n.3445G>A
|
|
|
|
ENST00000682420.1:n.2626G>A
|
|
|
|
ENST00000682429.1:c.*748G>A
|
ENSP00000506827.1:n.*748G>A
|
|
|
ENST00000682449.1:c.*830G>A
|
ENSP00000507836.1:n.*830G>A
|
|
|
ENST00000682470.1:c.2079G>A
|
ENSP00000507654.1:p.Gln693=
|
|
|
ENST00000682473.1:n.2044G>A
|
|
|
|
ENST00000682482.1:c.1953G>A
|
ENSP00000507903.1:p.Gln651=
|
|
|
ENST00000682492.1:n.2167G>A
|
|
|
|
ENST00000682493.1:c.*674G>A
|
ENSP00000506778.1:n.*674G>A
|
|
|
ENST00000682543.1:c.*1503G>A
|
ENSP00000507592.1:n.*1503G>A
|
|
|
ENST00000682597.1:n.4266G>A
|
|
|
|
ENST00000682658.1:c.*1111G>A
|
ENSP00000507773.1:n.*1111G>A
|
|
|
ENST00000682705.1:n.3148G>A
|
|
|
|
ENST00000682723.1:c.*158G>A
|
ENSP00000507115.1:n.*158G>A
|
|
|
ENST00000682735.1:c.*3747G>A
|
ENSP00000507007.1:n.*3747G>A
|
|
|
ENST00000682737.1:c.1482G>A
|
ENSP00000506876.1:p.Gln494=
|
|
|
ENST00000682757.1:n.3772G>A
|
|
|
|
ENST00000682855.1:c.2079G>A
|
ENSP00000507027.1:p.Gln693=
|
|
|
ENST00000682875.1:c.*158G>A
|
ENSP00000507771.1:n.*158G>A
|
|
|
ENST00000682930.1:c.2004G>A
|
ENSP00000507981.1:p.Gln668=
|
|
|
ENST00000682948.1:n.3111G>A
|
|
|
|
ENST00000682960.1:n.4320G>A
|
|
|
|
ENST00000683008.1:n.5534G>A
|
|
|
|
ENST00000683020.1:c.*620G>A
|
ENSP00000507944.1:n.*620G>A
|
|
|
ENST00000683099.1:n.4108G>A
|
|
|
|
ENST00000683170.1:n.3804G>A
|
|
|
|
ENST00000683212.1:c.*620G>A
|
ENSP00000507839.1:n.*620G>A
|
|
|
ENST00000683248.1:n.4037G>A
|
|
|
|
ENST00000683343.1:n.2933G>A
|
|
|
|
ENST00000683347.1:n.2286G>A
|
|
|
|
ENST00000683384.1:c.2100G>A
|
ENSP00000508330.1:n.2100G>A
|
|
|
ENST00000683396.1:n.4856G>A
|
|
|
|
ENST00000683410.1:n.2560G>A
|
|
|
|
ENST00000683443.1:n.1713G>A
|
|
|
|
ENST00000683485.1:n.4647G>A
|
|
|
|
ENST00000683504.1:n.7670G>A
|
|
|
|
ENST00000683533.1:c.*1503G>A
|
ENSP00000508296.1:n.*1503G>A
|
|
|
ENST00000683609.1:n.4148G>A
|
|
|
|
ENST00000683644.1:c.*1253G>A
|
ENSP00000507914.1:n.*1253G>A
|
|
|
ENST00000683690.1:c.*3531G>A
|
ENSP00000508152.1:n.*3531G>A
|
|
|
ENST00000683757.1:n.2068G>A
|
|
|
|
ENST00000683858.1:c.2031G>A
|
ENSP00000507657.1:p.Gln677=
|
|
|
ENST00000683875.1:c.1851G>A
|
ENSP00000507602.1:p.Gln617=
|
|
|
ENST00000683904.1:n.4384G>A
|
|
|
|
ENST00000683910.1:n.4774G>A
|
|
|
|
ENST00000683959.1:c.*1128G>A
|
ENSP00000508309.1:n.*1128G>A
|
|
|
ENST00000683976.1:c.*1628G>A
|
ENSP00000507183.1:n.*1628G>A
|
|
|
ENST00000683978.1:n.2222G>A
|
|
|
|
ENST00000683992.1:c.*1719G>A
|
ENSP00000508144.1:n.*1719G>A
|
|
|
ENST00000684020.1:n.2501G>A
|
|
|
|
ENST00000684044.1:n.3067G>A
|
|
|
|
ENST00000684057.1:n.2997G>A
|
|
|
|
ENST00000684076.1:n.3459G>A
|
|
|
|
ENST00000684128.1:n.3647G>A
|
|
|
|
ENST00000684194.1:n.3710G>A
|
|
|
|
ENST00000684205.1:n.3758G>A
|
|
|
|
ENST00000684246.1:c.*1719G>A
|
ENSP00000508273.1:n.*1719G>A
|
|
|
ENST00000684388.1:c.999G>A
|
ENSP00000507647.1:p.Gln333=
|
|
|
ENST00000684402.1:n.3320G>A
|
|
|
|
ENST00000684446.1:n.3563G>A
|
|
|
|
ENST00000684531.1:n.3521G>A
|
|
|
|
ENST00000684635.1:c.1974G>A
|
ENSP00000507335.1:p.Gln658=
|
|
|
ENST00000684640.1:c.2041G>A
|
ENSP00000507292.1:n.2041G>A
|
|
|
ENST00000684673.1:c.*674G>A
|
ENSP00000507746.1:n.*674G>A
|
|
|
ENST00000684684.1:c.*1331G>A
|
ENSP00000507026.1:n.*1331G>A
|
|
|
ENST00000245157.11:c.2079G>A
MANE Select
|
ENSP00000245157.5:p.Gln693=
|
|
|
ENST00000245157.9:c.2079G>A
|
ENSP00000245157.5:p.Gln693=
|
|
|
ENST00000562813.1:n.3566G>A
|
|
|
|
ENST00000564123.6:c.169G>A
|
|
|
|
ENST00000564459.5:c.342G>A
|
ENSP00000463731.1:p.Gln114=
|
|
|
ENST00000565781.5:n.5610G>A
|
|
|
|
ENST00000568104.5:c.1941G>A
|
ENSP00000456289.1:p.Gln647=
|
|
|
NM_031885.3:c.2079G>A
|
NP_114091.3:p.Gln693=
|
|
|
XM_005256080.1:c.2079G>A
|
XP_005256137.1:p.Gln693=
|
|
|
XM_005256080.2:c.2079G>A
|
XP_005256137.1:p.Gln693=
|
|
|
XR_001751958.1:n.2440G>A
|
|
|
|
XR_001751959.2:n.2437G>A
|
|
|
|
XR_001751960.1:n.2140G>A
|
|
|
|
XR_001751961.1:n.2140G>A
|
|
|
|
XR_933380.2:n.2268G>A
|
|
|
|
NM_031885.4:c.2079G>A
|
NP_114091.3:p.Gln693=
|
|
|
NM_001377456.1:c.2079G>A
|
NP_001364385.1:p.Gln693=
|
|
|
NM_031885.5:c.2079G>A
MANE Select
|
NP_114091.4:p.Gln693=
|
|
|
NR_165293.1:n.2369G>A
|
|
|
|
NR_165294.1:n.2366G>A
|
|
|
|
NR_165295.1:n.2197G>A
|
|
|
|
NR_165296.1:n.2069G>A
|
|
|
|
NR_165297.1:n.2069G>A
|
|
|
