|
ENST00000524561.2:n.3111T>G
|
|
|
|
ENST00000528374.2:c.121T>G
|
|
|
|
ENST00000529967.6:n.1881T>G
|
|
|
|
ENST00000532220.2:n.1274T>G
|
|
|
|
ENST00000642611.2:n.3611T>G
|
|
|
|
ENST00000645004.2:n.1041T>G
|
|
|
|
ENST00000682051.1:n.3558T>G
|
|
|
|
ENST00000682110.1:n.3611T>G
|
|
|
|
ENST00000682140.1:c.3539T>G
|
ENSP00000507829.1:p.Phe1180Cys
|
|
|
ENST00000682185.1:n.4847T>G
|
|
|
|
ENST00000682204.1:c.*1680T>G
|
ENSP00000507094.1:n.*1680T>G
|
|
|
ENST00000682215.1:n.3608T>G
|
|
|
|
ENST00000682288.1:c.*1973T>G
|
ENSP00000507506.1:n.*1973T>G
|
|
|
ENST00000682442.1:n.3831T>G
|
|
|
|
ENST00000682528.1:n.3688T>G
|
|
|
|
ENST00000682673.1:n.3555T>G
|
|
|
|
ENST00000682805.1:n.3608T>G
|
|
|
|
ENST00000682965.1:c.3396+967T>G
|
ENSP00000508229.1:n.3396+967T>G
|
|
|
ENST00000683093.1:n.3710T>G
|
|
|
|
ENST00000683136.1:c.3539T>G
|
ENSP00000507768.1:p.Phe1180Cys
|
|
|
ENST00000683153.1:n.3767T>G
|
|
|
|
ENST00000683365.1:n.3713T>G
|
|
|
|
ENST00000683377.1:n.3611T>G
|
|
|
|
ENST00000683456.1:c.*679T>G
|
ENSP00000508318.1:n.*679T>G
|
|
|
ENST00000683522.1:n.3611T>G
|
|
|
|
ENST00000683562.1:c.*1711T>G
|
ENSP00000508265.1:n.*1711T>G
|
|
|
ENST00000683693.1:n.3688T>G
|
|
|
|
ENST00000683725.1:c.3542T>G
|
ENSP00000507496.1:p.Phe1181Cys
|
|
|
ENST00000684010.1:n.3606T>G
|
|
|
|
ENST00000684157.1:n.3611T>G
|
|
|
|
ENST00000684253.1:n.3514T>G
|
|
|
|
ENST00000684288.1:c.*1714T>G
|
ENSP00000507143.1:n.*1714T>G
|
|
|
ENST00000684313.1:n.3043T>G
|
|
|
|
ENST00000684332.1:n.3684T>G
|
|
|
|
ENST00000684371.1:n.3717T>G
|
|
|
|
ENST00000684404.1:n.3654T>G
|
|
|
|
ENST00000684442.1:n.3611T>G
|
|
|
|
ENST00000684555.1:c.*1754T>G
|
ENSP00000507705.1:n.*1754T>G
|
|
|
ENST00000684571.1:c.3383T>G
|
ENSP00000506935.1:p.Phe1128Cys
|
|
|
ENST00000684593.1:c.*3247T>G
|
ENSP00000507005.1:n.*3247T>G
|
|
|
ENST00000684711.1:c.*1938T>G
|
ENSP00000506841.1:n.*1938T>G
|
|
|
ENST00000302539.9:c.3545T>G
|
ENSP00000303960.4:p.Phe1182Cys
|
|
|
ENST00000389817.8:c.3542T>G
MANE Select
|
ENSP00000374467.4:p.Phe1181Cys
|
|
|
ENST00000642271.1:c.3539T>G
|
ENSP00000493749.1:p.Phe1180Cys
|
|
|
ENST00000642579.1:c.1626T>G
|
|
|
|
ENST00000642611.1:n.3496T>G
|
|
|
|
ENST00000642902.1:c.3324T>G
|
|
|
|
ENST00000643260.1:c.3542T>G
|
ENSP00000494450.1:p.Phe1181Cys
|
|
|
ENST00000643562.1:c.*1518T>G
|
ENSP00000496124.1:n.*1518T>G
|
|
|
ENST00000643925.1:c.1666T>G
|
|
|
|
ENST00000644447.1:c.1898T>G
|
ENSP00000496282.1:p.Phe633Cys
|
|
|
ENST00000644484.1:c.*1797T>G
|
ENSP00000493558.1:n.*1797T>G
|
|
|
ENST00000644675.1:c.*1714T>G
|
ENSP00000494567.1:n.*1714T>G
|
|
|
ENST00000644757.1:c.*1827T>G
|
ENSP00000495085.1:n.*1827T>G
|
|
|
ENST00000644772.1:c.3608T>G
|
ENSP00000494321.1:p.Phe1203Cys
|
|
|
ENST00000645004.1:n.681T>G
|
|
|
|
ENST00000645076.1:c.2741T>G
|
|
|
|
ENST00000645417.1:c.708T>G
|
|
|
|
ENST00000645744.1:c.*1806T>G
|
ENSP00000494564.1:n.*1806T>G
|
|
|
ENST00000645760.1:c.3817T>G
|
|
|
|
ENST00000645884.1:c.*679T>G
|
ENSP00000495516.1:n.*679T>G
|
|
|
ENST00000646003.1:c.*1498T>G
|
ENSP00000495259.1:n.*1498T>G
|
|
|
ENST00000646207.1:c.*2009T>G
|
ENSP00000495025.1:n.*2009T>G
|
|
|
ENST00000646276.1:c.*1815T>G
|
ENSP00000496070.1:n.*1815T>G
|
|
|
ENST00000646592.1:c.2848T>G
|
|
|
|
ENST00000646902.1:c.3539T>G
|
ENSP00000494101.1:p.Phe1180Cys
|
|
|
ENST00000646993.1:c.*1938T>G
|
ENSP00000493720.1:n.*1938T>G
|
|
|
ENST00000647013.1:c.3548T>G
|
ENSP00000496741.1:n.3548T>G
|
|
|
ENST00000647015.1:c.3293T>G
|
ENSP00000495389.1:p.Phe1098Cys
|
|
|
ENST00000647086.1:c.*3272T>G
|
ENSP00000493677.1:n.*3272T>G
|
|
|
ENST00000647158.1:c.*1683T>G
|
ENSP00000495744.1:n.*1683T>G
|
|
|
ENST00000302539.8:c.3545T>G
|
ENSP00000303960.4:p.Phe1182Cys
|
|
|
ENST00000389817.7:c.3542T>G
|
ENSP00000374467.3:p.Phe1181Cys
|
|
|
ENST00000524561.1:n.674T>G
|
|
|
|
ENST00000527905.5:c.*418T>G
|
ENSP00000431653.1:n.*418T>G
|
|
|
ENST00000528374.1:c.12T>G
|
|
|
|
ENST00000531137.1:n.35T>G
|
|
|
|
NM_000352.4:c.3542T>G
|
NP_000343.2:p.Phe1181Cys
|
|
|
NM_001287174.1:c.3545T>G
|
NP_001274103.1:p.Phe1182Cys
|
|
|
XM_011520331.1:c.3542T>G
|
XP_011518633.1:p.Phe1181Cys
|
|
|
XM_011520332.1:c.3545T>G
|
XP_011518634.1:p.Phe1182Cys
|
|
|
XM_011520333.1:c.2042T>G
|
XP_011518635.1:p.Phe681Cys
|
|
|
XR_930890.1:n.3608T>G
|
|
|
|
XR_930892.1:n.3508T>G
|
|
|
|
XR_930893.1:n.3505T>G
|
|
|
|
NM_001351295.1:c.3608T>G
|
NP_001338224.1:p.Phe1203Cys
|
|
|
NM_001351296.1:c.3542T>G
|
NP_001338225.1:p.Phe1181Cys
|
|
|
NM_001351297.1:c.3539T>G
|
NP_001338226.1:p.Phe1180Cys
|
|
|
NR_147094.1:n.3691T>G
|
|
|
|
XM_017018197.2:c.3611T>G
|
XP_016873686.1:p.Phe1204Cys
|
|
|
XM_017018199.1:c.3608T>G
|
XP_016873688.1:p.Phe1203Cys
|
|
|
XM_017018201.2:c.3611T>G
|
XP_016873690.1:p.Phe1204Cys
|
|
|
XM_017018202.1:c.2108T>G
|
XP_016873691.1:p.Phe703Cys
|
|
|
XM_017018204.1:c.1499T>G
|
XP_016873693.1:p.Phe500Cys
|
|
|
XM_024448668.1:c.1910T>G
|
XP_024304436.1:p.Phe637Cys
|
|
|
XR_001747945.2:n.3683T>G
|
|
|
|
XR_001747946.2:n.3614T>G
|
|
|
|
XR_002957189.1:n.3763T>G
|
|
|
|
NM_000352.6:c.3542T>G
MANE Select
|
NP_000343.2:p.Phe1181Cys
|
|
|
NM_001287174.2:c.3545T>G
|
NP_001274103.1:p.Phe1182Cys
|
|
|
NM_001351295.2:c.3608T>G
|
NP_001338224.1:p.Phe1203Cys
|
|
|
NM_001351296.2:c.3542T>G
|
NP_001338225.1:p.Phe1181Cys
|
|
|
NM_001351297.2:c.3539T>G
|
NP_001338226.1:p.Phe1180Cys
|
|
|
NR_147094.2:n.3691T>G
|
|
|
|
NM_001287174.3:c.3545T>G
|
NP_001274103.1:p.Phe1182Cys
|
|
