|
ENST00000524561.2:n.1707C>T
|
|
|
|
ENST00000529967.6:n.297C>T
|
|
|
|
ENST00000642611.2:n.2104C>T
|
|
|
|
ENST00000682051.1:n.2051C>T
|
|
|
|
ENST00000682110.1:n.2104C>T
|
|
|
|
ENST00000682140.1:c.2035C>T
|
ENSP00000507829.1:p.Gln679Ter
|
|
|
ENST00000682185.1:n.3343C>T
|
|
|
|
ENST00000682204.1:c.*176C>T
|
ENSP00000507094.1:n.*176C>T
|
|
|
ENST00000682215.1:n.2104C>T
|
|
|
|
ENST00000682288.1:c.*466C>T
|
ENSP00000507506.1:n.*466C>T
|
|
|
ENST00000682442.1:n.2225C>T
|
|
|
|
ENST00000682528.1:n.2104C>T
|
|
|
|
ENST00000682673.1:n.2051C>T
|
|
|
|
ENST00000682805.1:n.2104C>T
|
|
|
|
ENST00000682965.1:c.2035C>T
|
ENSP00000508229.1:p.Gln679Ter
|
|
|
ENST00000683093.1:n.2206C>T
|
|
|
|
ENST00000683136.1:c.2035C>T
|
ENSP00000507768.1:p.Gln679Ter
|
|
|
ENST00000683153.1:n.2263C>T
|
|
|
|
ENST00000683253.1:n.3120C>T
|
|
|
|
ENST00000683365.1:n.2206C>T
|
|
|
|
ENST00000683377.1:n.2104C>T
|
|
|
|
ENST00000683456.1:c.2035C>T
|
ENSP00000508318.1:p.Gln679Ter
|
|
|
ENST00000683522.1:n.2104C>T
|
|
|
|
ENST00000683562.1:c.*207C>T
|
ENSP00000508265.1:n.*207C>T
|
|
|
ENST00000683693.1:n.2104C>T
|
|
|
|
ENST00000683725.1:c.2038C>T
|
ENSP00000507496.1:p.Gln680Ter
|
|
|
ENST00000684010.1:n.2104C>T
|
|
|
|
ENST00000684157.1:n.2104C>T
|
|
|
|
ENST00000684253.1:n.2010C>T
|
|
|
|
ENST00000684288.1:c.*207C>T
|
ENSP00000507143.1:n.*207C>T
|
|
|
ENST00000684313.1:n.1724-11329C>T
|
|
|
|
ENST00000684332.1:n.2177C>T
|
|
|
|
ENST00000684371.1:n.2210C>T
|
|
|
|
ENST00000684404.1:n.2104C>T
|
|
|
|
ENST00000684442.1:n.2104C>T
|
|
|
|
ENST00000684555.1:c.*247C>T
|
ENSP00000507705.1:n.*247C>T
|
|
|
ENST00000684571.1:c.1879C>T
|
ENSP00000506935.1:p.Gln627Ter
|
|
|
ENST00000684593.1:c.*1743C>T
|
ENSP00000507005.1:n.*1743C>T
|
|
|
ENST00000684711.1:c.*434C>T
|
ENSP00000506841.1:n.*434C>T
|
|
|
ENST00000302539.9:c.2038C>T
|
ENSP00000303960.4:p.Gln680Ter
|
|
|
ENST00000389817.8:c.2038C>T
MANE Select
|
ENSP00000374467.4:p.Gln680Ter
|
|
|
ENST00000532728.6:c.1619C>T
|
|
|
|
ENST00000642271.1:c.2035C>T
|
ENSP00000493749.1:p.Gln679Ter
|
|
|
ENST00000642579.1:c.119C>T
|
|
|
|
ENST00000642611.1:n.1989C>T
|
|
|
|
ENST00000642902.1:c.1873C>T
|
|
|
|
ENST00000643260.1:c.2035C>T
|
ENSP00000494450.1:p.Gln679Ter
|
|
|
ENST00000643562.1:c.*14C>T
|
ENSP00000496124.1:n.*14C>T
|
|
|
ENST00000644447.1:c.391C>T
|
ENSP00000496282.1:p.Gln131Ter
|
|
|
ENST00000644472.1:c.*399C>T
|
ENSP00000495378.1:n.*399C>T
|
|
|
ENST00000644484.1:c.*247C>T
|
ENSP00000493558.1:n.*247C>T
|
|
|
ENST00000644542.1:c.*1740C>T
|
ENSP00000495532.1:n.*1740C>T
|
|
|
ENST00000644649.1:c.1208C>T
|
|
|
|
ENST00000644675.1:c.*207C>T
|
ENSP00000494567.1:n.*207C>T
|
|
|
ENST00000644757.1:c.*340C>T
|
ENSP00000495085.1:n.*340C>T
|
|
|
ENST00000644772.1:c.2104C>T
|
ENSP00000494321.1:p.Gln702Ter
|
|
|
ENST00000645076.1:c.1290C>T
|
|
|
|
ENST00000645744.1:c.*399C>T
|
ENSP00000494564.1:n.*399C>T
|
|
|
ENST00000645760.1:c.2313C>T
|
|
|
|
ENST00000645884.1:c.2035C>T
|
ENSP00000495516.1:p.Gln679Ter
|
|
|
ENST00000646003.1:c.*176C>T
|
ENSP00000495259.1:n.*176C>T
|
|
|
ENST00000646207.1:c.*399C>T
|
ENSP00000495025.1:n.*399C>T
|
|
|
ENST00000646276.1:c.*308C>T
|
ENSP00000496070.1:n.*308C>T
|
|
|
ENST00000646592.1:c.1261C>T
|
|
|
|
ENST00000646902.1:c.2035C>T
|
ENSP00000494101.1:p.Gln679Ter
|
|
|
ENST00000646993.1:c.*434C>T
|
ENSP00000493720.1:n.*434C>T
|
|
|
ENST00000647013.1:c.2041C>T
|
ENSP00000496741.1:n.2041C>T
|
|
|
ENST00000647015.1:c.1786C>T
|
ENSP00000495389.1:p.Gln596Ter
|
|
|
ENST00000647086.1:c.*1765C>T
|
ENSP00000493677.1:n.*1765C>T
|
|
|
ENST00000647158.1:c.*176C>T
|
ENSP00000495744.1:n.*176C>T
|
|
|
ENST00000302539.8:c.2038C>T
|
ENSP00000303960.4:p.Gln680Ter
|
|
|
ENST00000389817.7:c.2038C>T
|
ENSP00000374467.3:p.Gln680Ter
|
|
|
ENST00000527905.5:c.2008C>T
|
ENSP00000431653.1:p.Gln670Ter
|
|
|
NM_000352.4:c.2038C>T
|
NP_000343.2:p.Gln680Ter
|
|
|
NM_001287174.1:c.2038C>T
|
NP_001274103.1:p.Gln680Ter
|
|
|
XM_011520331.1:c.2035C>T
|
XP_011518633.1:p.Gln679Ter
|
|
|
XM_011520332.1:c.2038C>T
|
XP_011518634.1:p.Gln680Ter
|
|
|
XM_011520333.1:c.535C>T
|
XP_011518635.1:p.Gln179Ter
|
|
|
XM_011520334.1:c.2038C>T
|
XP_011518636.1:p.Gln680Ter
|
|
|
XR_930890.1:n.2101C>T
|
|
|
|
XR_930891.1:n.2101C>T
|
|
|
|
XR_930892.1:n.2101C>T
|
|
|
|
XR_930893.1:n.2101C>T
|
|
|
|
NM_001351295.1:c.2104C>T
|
NP_001338224.1:p.Gln702Ter
|
|
|
NM_001351296.1:c.2035C>T
|
NP_001338225.1:p.Gln679Ter
|
|
|
NM_001351297.1:c.2035C>T
|
NP_001338226.1:p.Gln679Ter
|
|
|
NR_147094.1:n.2104C>T
|
|
|
|
XM_017018197.2:c.2104C>T
|
XP_016873686.1:p.Gln702Ter
|
|
|
XM_017018199.1:c.2101C>T
|
XP_016873688.1:p.Gln701Ter
|
|
|
XM_017018201.2:c.2104C>T
|
XP_016873690.1:p.Gln702Ter
|
|
|
XM_017018202.1:c.601C>T
|
XP_016873691.1:p.Gln201Ter
|
|
|
XM_017018204.1:c.-6C>T
|
XP_016873693.1:n.-6C>T
|
|
|
XM_024448668.1:c.403C>T
|
XP_024304436.1:p.Gln135Ter
|
|
|
XR_001747945.2:n.2176C>T
|
|
|
|
XR_001747946.2:n.2110C>T
|
|
|
|
XR_002957189.1:n.2176C>T
|
|
|
|
NM_000352.6:c.2038C>T
MANE Select
|
NP_000343.2:p.Gln680Ter
|
|
|
NM_001287174.2:c.2038C>T
|
NP_001274103.1:p.Gln680Ter
|
|
|
NM_001351295.2:c.2104C>T
|
NP_001338224.1:p.Gln702Ter
|
|
|
NM_001351296.2:c.2035C>T
|
NP_001338225.1:p.Gln679Ter
|
|
|
NM_001351297.2:c.2035C>T
|
NP_001338226.1:p.Gln679Ter
|
|
|
NR_147094.2:n.2104C>T
|
|
|
|
NM_001287174.3:c.2038C>T
|
NP_001274103.1:p.Gln680Ter
|
|
