|
ENST00000357674.9:c.1672G>C
|
ENSP00000350303.6:p.Asp558His
|
|
|
ENST00000422288.6:c.1618G>C
|
ENSP00000413238.1:p.Asp540His
|
|
|
ENST00000436682.6:c.712G>C
|
ENSP00000393771.2:p.Asp238His
|
|
|
ENST00000469073.2:c.1546G>C
|
ENSP00000499640.1:p.Asp516His
|
|
|
ENST00000653331.1:c.1423G>C
|
ENSP00000499752.1:p.Asp475His
|
|
|
ENST00000653583.1:n.1344G>C
|
|
|
|
ENST00000653795.1:c.1522G>C
|
ENSP00000499599.1:p.Asp508His
|
|
|
ENST00000654733.1:c.1384G>C
|
ENSP00000499730.1:p.Asp462His
|
|
|
ENST00000654737.1:c.1618G>C
|
ENSP00000499578.1:p.Asp540His
|
|
|
ENST00000655488.1:c.1672G>C
|
ENSP00000499657.1:p.Asp558His
|
|
|
ENST00000656087.1:c.1672G>C
|
ENSP00000499723.1:p.Asp558His
|
|
|
ENST00000656428.1:c.1645G>C
|
ENSP00000499329.1:p.Asp549His
|
|
|
ENST00000656944.1:c.1672G>C
|
ENSP00000499584.1:p.Asp558His
|
|
|
ENST00000657098.1:c.1369G>C
|
ENSP00000499247.1:p.Asp457His
|
|
|
ENST00000657381.1:c.1672G>C
|
ENSP00000499507.1:p.Asp558His
|
|
|
ENST00000658155.1:c.1384G>C
|
ENSP00000499257.1:p.Asp462His
|
|
|
ENST00000658701.1:c.1672G>C
|
ENSP00000499531.1:p.Asp558His
|
|
|
ENST00000659221.1:c.1672G>C
|
ENSP00000499269.1:p.Asp558His
|
|
|
ENST00000659716.1:c.1672G>C
|
ENSP00000499602.1:p.Asp558His
|
|
|
ENST00000660237.1:c.1502G>C
|
ENSP00000499707.1:n.1502G>C
|
|
|
ENST00000660432.1:c.*1400G>C
|
ENSP00000499677.1:n.*1400G>C
|
|
|
ENST00000660553.1:c.1522G>C
|
ENSP00000499559.1:p.Asp508His
|
|
|
ENST00000660898.1:c.1771G>C
|
ENSP00000499363.1:p.Asp591His
|
|
|
ENST00000661013.1:c.1672G>C
|
ENSP00000499440.1:p.Asp558His
|
|
|
ENST00000661229.1:c.1592G>C
|
|
|
|
ENST00000661336.1:c.1618G>C
|
ENSP00000499229.1:p.Asp540His
|
|
|
ENST00000661440.1:c.*1400G>C
|
ENSP00000499381.1:n.*1400G>C
|
|
|
ENST00000661453.1:c.1672G>C
|
ENSP00000499514.1:p.Asp558His
|
|
|
ENST00000662727.1:c.1672G>C
|
ENSP00000499774.1:p.Asp558His
|
|
|
ENST00000663148.1:c.1672G>C
|
ENSP00000499384.1:p.Asp558His
|
|
|
ENST00000664564.1:c.*776G>C
|
ENSP00000499320.1:n.*776G>C
|
|
|
ENST00000664991.1:c.1672G>C
|
ENSP00000499250.1:p.Asp558His
|
|
|
ENST00000665728.1:c.*933G>C
|
ENSP00000499682.1:n.*933G>C
|
|
|
ENST00000666007.1:c.1618G>C
|
ENSP00000499793.1:p.Asp540His
|
|
|
ENST00000667104.1:c.1618G>C
|
ENSP00000499313.1:p.Asp540His
|
|
|
ENST00000667157.1:c.1672G>C
MANE Select
|
ENSP00000499414.1:p.Asp558His
|
|
|
ENST00000667971.1:c.1672G>C
|
ENSP00000499347.1:p.Asp558His
|
|
|
ENST00000668578.1:n.1527G>C
|
|
|
|
ENST00000669332.1:c.1384G>C
|
ENSP00000499499.1:p.Asp462His
|
|
|
ENST00000669565.1:c.1672G>C
|
ENSP00000499413.1:p.Asp558His
|
|
|
ENST00000669714.1:c.*327G>C
|
ENSP00000499698.1:n.*327G>C
|
|
|
ENST00000670366.1:c.*776G>C
|
ENSP00000499310.1:n.*776G>C
|
|
|
ENST00000670455.1:c.1672G>C
|
ENSP00000499542.1:p.Asp558His
|
|
|
ENST00000670935.1:c.1771G>C
|
ENSP00000499437.1:p.Asp591His
|
|
|
ENST00000671185.1:c.1672G>C
|
ENSP00000499580.1:p.Asp558His
|
|
|
ENST00000671246.1:c.1522G>C
|
ENSP00000499692.1:p.Asp508His
|
|
|
ENST00000346964.6:c.1771G>C
|
ENSP00000345731.2:p.Asp591His
|
|
|
ENST00000357674.8:c.1672G>C
|
ENSP00000350303.5:p.Asp558His
|
|
|
ENST00000392381.7:c.1771G>C
|
ENSP00000376186.3:p.Asp591His
|
|
|
ENST00000392382.6:c.1672G>C
|
ENSP00000376187.2:p.Asp558His
|
|
|
ENST00000419227.5:c.*124G>C
|
ENSP00000396768.1:n.*124G>C
|
|
|
ENST00000419354.5:c.1771G>C
|
ENSP00000407531.1:p.Asp591His
|
|
|
ENST00000422288.5:c.1618G>C
|
ENSP00000413238.1:p.Asp540His
|
|
|
ENST00000443183.5:c.1423G>C
|
ENSP00000396658.1:p.Asp475His
|
|
|
ENST00000448528.6:c.1771G>C
|
ENSP00000391732.2:p.Asp591His
|
|
|
ENST00000450955.5:c.1672G>C
|
ENSP00000411278.1:p.Asp558His
|
|
|
ENST00000452595.5:c.1423G>C
|
ENSP00000398939.1:p.Asp475His
|
|
|
ENST00000471733.5:n.1799G>C
|
|
|
|
NM_001098424.1:c.1771G>C
|
NP_001091894.1:p.Asp591His
|
|
|
NM_001204386.1:c.1672G>C
|
NP_001191315.1:p.Asp558His
|
|
|
NM_001204387.1:c.1423G>C
|
NP_001191316.1:p.Asp475His
|
|
|
NM_001204388.1:c.1423G>C
|
NP_001191317.1:p.Asp475His
|
|
|
NM_001290983.1:c.1771G>C
|
NP_001277912.1:p.Asp591His
|
|
|
NM_004087.2:c.1771G>C
|
NP_004078.2:p.Asp591His
|
|
|
XM_005269289.2:c.1771G>C
|
XP_005269346.1:p.Asp591His
|
|
|
XM_005269301.3:c.1522G>C
|
XP_005269358.1:p.Asp508His
|
|
|
XM_011512493.1:c.1771G>C
|
XP_011510795.1:p.Asp591His
|
|
|
XM_011512494.1:c.1771G>C
|
XP_011510796.1:p.Asp591His
|
|
|
XM_011512495.1:c.1771G>C
|
XP_011510797.1:p.Asp591His
|
|
|
XM_011512496.1:c.1771G>C
|
XP_011510798.1:p.Asp591His
|
|
|
XM_011512497.1:c.1771G>C
|
XP_011510799.1:p.Asp591His
|
|
|
XM_011512498.1:c.1771G>C
|
XP_011510800.1:p.Asp591His
|
|
|
XM_011512499.1:c.1771G>C
|
XP_011510801.1:p.Asp591His
|
|
|
XM_011512500.1:c.1771G>C
|
XP_011510802.1:p.Asp591His
|
|
|
XM_011512501.1:c.1672G>C
|
XP_011510803.1:p.Asp558His
|
|
|
XM_011512502.1:c.1771G>C
|
XP_011510804.1:p.Asp591His
|
|
|
XM_011512503.1:c.1672G>C
|
XP_011510805.1:p.Asp558His
|
|
|
XM_011512504.1:c.1618G>C
|
XP_011510806.1:p.Asp540His
|
|
|
XM_011512505.1:c.1672G>C
|
XP_011510807.1:p.Asp558His
|
|
|
XM_011512506.1:c.1618G>C
|
XP_011510808.1:p.Asp540His
|
|
|
XM_011512507.1:c.1423G>C
|
XP_011510809.1:p.Asp475His
|
|
|
XM_011512508.1:c.1771G>C
|
XP_011510810.1:p.Asp591His
|
|
|
XR_246039.2:n.2240G>C
|
|
|
|
XR_924108.1:n.2240G>C
|
|
|
|
NM_001363865.1:c.1672G>C
|
NP_001350794.1:p.Asp558His
|
|
|
NM_001366203.1:c.1618G>C
|
NP_001353132.1:p.Asp540His
|
|
|
NM_001366204.1:c.1672G>C
|
NP_001353133.1:p.Asp558His
|
|
|
NM_001366205.1:c.1672G>C
|
NP_001353134.1:p.Asp558His
|
|
|
NM_001366206.1:c.1618G>C
|
NP_001353135.1:p.Asp540His
|
|
|
NM_001366207.1:c.1672G>C
MANE Select
|
NP_001353136.1:p.Asp558His
|
|
|
NM_001366208.1:c.1672G>C
|
NP_001353137.1:p.Asp558His
|
|
|
NM_001366209.1:c.1672G>C
|
NP_001353138.1:p.Asp558His
|
|
|
NM_001366210.1:c.1672G>C
|
NP_001353139.1:p.Asp558His
|
|
|
NM_001366211.1:c.1672G>C
|
NP_001353140.1:p.Asp558His
|
|
|
NM_001366212.1:c.1672G>C
|
NP_001353141.1:p.Asp558His
|
|
|
NM_001366213.1:c.1672G>C
|
NP_001353142.1:p.Asp558His
|
|
|
NM_001366214.1:c.1771G>C
|
NP_001353143.1:p.Asp591His
|
|
|
NM_001366215.1:c.1672G>C
|
NP_001353144.1:p.Asp558His
|
|
|
NM_001366216.1:c.1618G>C
|
NP_001353145.1:p.Asp540His
|
|
|
NM_001366217.1:c.1672G>C
|
NP_001353146.1:p.Asp558His
|
|
|
NM_001366218.1:c.1771G>C
|
NP_001353147.1:p.Asp591His
|
|
|
NM_001366219.1:c.1618G>C
|
NP_001353148.1:p.Asp540His
|
|
|
NM_001366220.1:c.1618G>C
|
NP_001353149.1:p.Asp540His
|
|
|
NM_001366221.1:c.1522G>C
|
NP_001353150.1:p.Asp508His
|
|
|
NM_001366222.1:c.1522G>C
|
NP_001353151.1:p.Asp508His
|
|
|
NR_158764.1:n.2166G>C
|
|
|
|
NR_158765.1:n.2295G>C
|
|
|
|
NR_158766.1:n.1487G>C
|
|
|
|
NR_158767.1:n.1487G>C
|
|
|
|
XM_005269289.4:c.1771G>C
|
XP_005269346.1:p.Asp591His
|
|
|
XM_011512502.3:c.1771G>C
|
XP_011510804.1:p.Asp591His
|
|
|
XM_017005800.1:c.1771G>C
|
XP_016861289.1:p.Asp591His
|
|
|
XM_017005801.1:c.1771G>C
|
XP_016861290.1:p.Asp591His
|
|
|
XM_017005802.1:c.1771G>C
|
XP_016861291.1:p.Asp591His
|
|
|
XM_017005803.1:c.1771G>C
|
XP_016861292.1:p.Asp591His
|
|
|
XM_017005811.2:c.1618G>C
|
XP_016861300.1:p.Asp540His
|
|
|
XM_017005812.1:c.1618G>C
|
XP_016861301.1:p.Asp540His
|
|
|
XM_017005813.1:c.1618G>C
|
XP_016861302.1:p.Asp540His
|
|
|
XM_017005819.1:c.1672G>C
|
XP_016861308.1:p.Asp558His
|
|
|
XM_017005821.2:c.1522G>C
|
XP_016861310.1:p.Asp508His
|
|
|
XM_017005823.2:c.1423G>C
|
XP_016861312.1:p.Asp475His
|
|
|
XM_017005824.2:c.550G>C
|
XP_016861313.1:p.Asp184His
|
|
|
XR_001740036.2:n.2246G>C
|
|
|
|
XR_001740037.2:n.2246G>C
|
|
|
|
XR_001740038.2:n.2246G>C
|
|
|
|
XR_001740039.2:n.2246G>C
|
|
|
|
XR_001740040.2:n.2093G>C
|
|
|
|
XR_001740043.2:n.2147G>C
|
|
|
|
XR_001740044.2:n.2093G>C
|
|
|
|
XR_924108.3:n.2246G>C
|
|
|
|
NM_001204387.2:c.1423G>C
|
NP_001191316.1:p.Asp475His
|
|
|
NM_001204388.2:c.1423G>C
|
NP_001191317.1:p.Asp475His
|
|
|
NM_001290983.2:c.1771G>C
|
NP_001277912.1:p.Asp591His
|
|
