ENST00000568566.6:c.*2301G>C
|
ENSP00000455997.2:n.*2301G>C
|
|
ENST00000642206.2:c.3799G>C
|
ENSP00000495146.2:p.Glu1267Gln
|
|
ENST00000642365.2:c.3949G>C
|
ENSP00000495459.2:p.Glu1317Gln
|
|
ENST00000644417.2:c.*4332G>C
|
ENSP00000493912.2:n.*4332G>C
|
|
ENST00000646464.2:c.*6701G>C
|
ENSP00000496610.2:n.*6701G>C
|
|
ENST00000219476.9:c.3952G>C
MANE Select
|
ENSP00000219476.3:p.Glu1318Gln
|
|
ENST00000350773.9:c.3883G>C
|
ENSP00000344383.4:p.Glu1295Gln
|
|
ENST00000401874.7:c.3751G>C
|
ENSP00000384468.2:p.Glu1251Gln
|
|
ENST00000568454.6:c.3784G>C
|
ENSP00000454487.1:p.Glu1262Gln
|
|
ENST00000569110.2:c.188G>C
|
|
|
ENST00000569930.2:n.1834G>C
|
|
|
ENST00000642365.1:c.2606G>C
|
|
|
ENST00000642561.1:c.3823G>C
|
ENSP00000495099.1:p.Glu1275Gln
|
|
ENST00000642728.1:n.134G>C
|
|
|
ENST00000642797.1:c.3754G>C
|
ENSP00000493846.1:p.Glu1252Gln
|
|
ENST00000642936.1:c.3820G>C
|
ENSP00000494514.1:p.Glu1274Gln
|
|
ENST00000643088.1:c.3751G>C
|
ENSP00000494747.1:p.Glu1251Gln
|
|
ENST00000643426.1:n.1600G>C
|
|
|
ENST00000643533.1:n.393G>C
|
|
|
ENST00000643946.1:c.3883G>C
|
ENSP00000495927.1:p.Glu1295Gln
|
|
ENST00000644043.1:c.3823G>C
|
ENSP00000496262.1:p.Glu1275Gln
|
|
ENST00000644329.1:c.3751G>C
|
ENSP00000496611.1:p.Glu1251Gln
|
|
ENST00000644335.1:c.3754G>C
|
ENSP00000496317.1:p.Glu1252Gln
|
|
ENST00000644399.1:c.3873G>C
|
|
|
ENST00000645024.1:n.2036G>C
|
|
|
ENST00000645186.1:c.195G>C
|
|
|
ENST00000646388.1:c.3952G>C
|
ENSP00000495921.1:p.Glu1318Gln
|
|
ENST00000646634.1:n.2767G>C
|
|
|
ENST00000646674.1:n.1204G>C
|
|
|
ENST00000647042.1:n.1175G>C
|
|
|
ENST00000647180.1:n.1065G>C
|
|
|
ENST00000219476.7:c.3952G>C
|
ENSP00000219476.3:p.Glu1318Gln
|
|
ENST00000350773.8:c.3883G>C
|
ENSP00000344383.4:p.Glu1295Gln
|
|
ENST00000382538.10:c.3607G>C
|
ENSP00000371978.6:p.Glu1203Gln
|
|
ENST00000401874.6:c.3751G>C
|
ENSP00000384468.2:p.Glu1251Gln
|
|
ENST00000439117.6:c.*3119G>C
|
ENSP00000406980.2:n.*3119G>C
|
|
ENST00000439673.6:c.3643G>C
|
ENSP00000399232.2:p.Glu1215Gln
|
|
ENST00000497886.5:n.1710G>C
|
|
|
ENST00000568454.5:c.3784G>C
|
ENSP00000454487.1:p.Glu1262Gln
|
|
ENST00000569110.1:c.134G>C
|
|
|
ENST00000569930.1:n.1067G>C
|
|
|
NM_000548.3:c.3952G>C , LRG_487t1:c.3952G>C
|
NP_000539.2:p.Glu1318Gln
|
|
NM_001077183.1:c.3751G>C
|
NP_001070651.1:p.Glu1251Gln
|
|
NM_001114382.1:c.3883G>C
|
NP_001107854.1:p.Glu1295Gln
|
|
XM_005255529.3:c.3823G>C
|
XP_005255586.2:p.Glu1275Gln
|
|
XM_005255531.3:c.3754G>C
|
XP_005255588.2:p.Glu1252Gln
|
|
XM_011522636.1:c.4006G>C
|
XP_011520938.1:p.Glu1336Gln
|
|
XM_011522637.1:c.4003G>C
|
XP_011520939.1:p.Glu1335Gln
|
|
XM_011522638.1:c.3895G>C
|
XP_011520940.1:p.Glu1299Gln
|
|
XM_011522639.1:c.3877G>C
|
XP_011520941.1:p.Glu1293Gln
|
|
XM_011522640.1:c.3874G>C
|
XP_011520942.1:p.Glu1292Gln
|
|
XM_011522641.1:c.3643G>C
|
XP_011520943.1:p.Glu1215Gln
|
|
NM_000548.4:c.3952G>C
|
NP_000539.2:p.Glu1318Gln
|
|
NM_001077183.2:c.3751G>C
|
NP_001070651.1:p.Glu1251Gln
|
|
NM_001114382.2:c.3883G>C
|
NP_001107854.1:p.Glu1295Gln
|
|
NM_001318827.1:c.3643G>C
|
NP_001305756.1:p.Glu1215Gln
|
|
NM_001318829.1:c.3607G>C
|
NP_001305758.1:p.Glu1203Gln
|
|
NM_001318831.1:c.3220G>C
|
NP_001305760.1:p.Glu1074Gln
|
|
NM_001318832.1:c.3784G>C
|
NP_001305761.1:p.Glu1262Gln
|
|
NM_001363528.1:c.3754G>C
|
NP_001350457.1:p.Glu1252Gln
|
|
NM_021055.2:c.3823G>C
|
NP_066399.2:p.Glu1275Gln
|
|
XM_005255531.4:c.3754G>C
|
XP_005255588.2:p.Glu1252Gln
|
|
XM_011522636.2:c.4006G>C
|
XP_011520938.1:p.Glu1336Gln
|
|
XM_011522637.2:c.4003G>C
|
XP_011520939.1:p.Glu1335Gln
|
|
XM_011522638.2:c.4168G>C
|
XP_011520940.2:p.Glu1390Gln
|
|
XM_011522639.2:c.3877G>C
|
XP_011520941.1:p.Glu1293Gln
|
|
XM_011522640.2:c.3874G>C
|
XP_011520942.1:p.Glu1292Gln
|
|
XM_017023615.1:c.3949G>C
|
XP_016879104.1:p.Glu1317Gln
|
|
XM_017023616.1:c.3820G>C
|
XP_016879105.1:p.Glu1274Gln
|
|
XM_017023617.1:c.3916G>C
|
XP_016879106.1:p.Glu1306Gln
|
|
XM_017023618.1:c.2662G>C
|
XP_016879107.1:p.Glu888Gln
|
|
XM_024450413.1:c.3751G>C
|
XP_024306181.1:p.Glu1251Gln
|
|
NM_000548.5:c.3952G>C
MANE Select
|
NP_000539.2:p.Glu1318Gln
|
|
NM_001370404.1:c.3820G>C
|
NP_001357333.1:p.Glu1274Gln
|
|
NM_001370405.1:c.3823G>C
|
NP_001357334.1:p.Glu1275Gln
|
|
NM_001077183.3:c.3751G>C
|
NP_001070651.1:p.Glu1251Gln
|
|
NM_001114382.3:c.3883G>C
|
NP_001107854.1:p.Glu1295Gln
|
|
NM_001318827.2:c.3643G>C
|
NP_001305756.1:p.Glu1215Gln
|
|
NM_001318829.2:c.3607G>C
|
NP_001305758.1:p.Glu1203Gln
|
|
NM_001318831.2:c.3220G>C
|
NP_001305760.1:p.Glu1074Gln
|
|
NM_001318832.2:c.3784G>C
|
NP_001305761.1:p.Glu1262Gln
|
|
NM_001363528.2:c.3754G>C
|
NP_001350457.1:p.Glu1252Gln
|
|
NM_021055.3:c.3823G>C
|
NP_066399.2:p.Glu1275Gln
|
|