|
NM_000548.5:c.4115T>C
MANE Select
|
NP_000539.2:p.Val1372Ala
|
|
ENST00000219476.9:c.4115T>C
MANE Select
|
ENSP00000219476.3:p.Val1372Ala
|
|
NM_000548.3:c.4115T>C , LRG_487t1:c.4115T>C
|
NP_000539.2:p.Val1372Ala
|
|
NM_000548.4:c.4115T>C
|
NP_000539.2:p.Val1372Ala
|
|
NM_001077183.1:c.3914T>C
|
NP_001070651.1:p.Val1305Ala
|
|
NM_001077183.2:c.3914T>C
|
NP_001070651.1:p.Val1305Ala
|
|
NM_001077183.3:c.3914T>C
|
NP_001070651.1:p.Val1305Ala
|
|
NM_001114382.1:c.4046T>C
|
NP_001107854.1:p.Val1349Ala
|
|
NM_001114382.2:c.4046T>C
|
NP_001107854.1:p.Val1349Ala
|
|
NM_001114382.3:c.4046T>C
|
NP_001107854.1:p.Val1349Ala
|
|
NM_001318827.1:c.3806T>C
|
NP_001305756.1:p.Val1269Ala
|
|
NM_001318827.2:c.3806T>C
|
NP_001305756.1:p.Val1269Ala
|
|
NM_001318829.1:c.3770T>C
|
NP_001305758.1:p.Val1257Ala
|
|
NM_001318829.2:c.3770T>C
|
NP_001305758.1:p.Val1257Ala
|
|
NM_001318831.1:c.3383T>C
|
NP_001305760.1:p.Val1128Ala
|
|
NM_001318831.2:c.3383T>C
|
NP_001305760.1:p.Val1128Ala
|
|
NM_001318832.1:c.3947T>C
|
NP_001305761.1:p.Val1316Ala
|
|
NM_001318832.2:c.3947T>C
|
NP_001305761.1:p.Val1316Ala
|
|
NM_001363528.1:c.3917T>C
|
NP_001350457.1:p.Val1306Ala
|
|
NM_001363528.2:c.3917T>C
|
NP_001350457.1:p.Val1306Ala
|
|
NM_001370404.1:c.3983T>C
|
NP_001357333.1:p.Val1328Ala
|
|
NM_001370405.1:c.3986T>C
|
NP_001357334.1:p.Val1329Ala
|
|
NM_021055.2:c.3986T>C
|
NP_066399.2:p.Val1329Ala
|
|
NM_021055.3:c.3986T>C
|
NP_066399.2:p.Val1329Ala
|
|
ENST00000219476.7:c.4115T>C
|
ENSP00000219476.3:p.Val1372Ala
|
|
ENST00000350773.8:c.4046T>C
|
ENSP00000344383.4:p.Val1349Ala
|
|
ENST00000350773.9:c.4046T>C
|
ENSP00000344383.4:p.Val1349Ala
|
|
ENST00000382538.10:c.3770T>C
|
ENSP00000371978.6:p.Val1257Ala
|
|
ENST00000401874.6:c.3914T>C
|
ENSP00000384468.2:p.Val1305Ala
|
|
ENST00000401874.7:c.3914T>C
|
ENSP00000384468.2:p.Val1305Ala
|
|
ENST00000439117.6:c.*3282T>C
|
ENSP00000406980.2:n.*3282T>C
|
|
ENST00000439673.6:c.3806T>C
|
ENSP00000399232.2:p.Val1269Ala
|
|
ENST00000497886.5:n.1873T>C
|
|
|
ENST00000568454.5:c.3947T>C
|
ENSP00000454487.1:p.Val1316Ala
|
|
ENST00000568454.6:c.3947T>C
|
ENSP00000454487.1:p.Val1316Ala
|
|
ENST00000568566.6:c.*2464T>C
|
ENSP00000455997.2:n.*2464T>C
|
|
ENST00000569110.1:c.297T>C
|
|
|
ENST00000569110.2:c.351T>C
|
|
|
ENST00000569930.1:n.1230T>C
|
|
|
ENST00000569930.2:n.1997T>C
|
|
|
ENST00000642206.2:c.3962T>C
|
ENSP00000495146.2:p.Val1321Ala
|
|
ENST00000642365.1:c.2769T>C
|
|
|
ENST00000642365.2:c.4112T>C
|
ENSP00000495459.2:p.Val1371Ala
|
|
ENST00000642561.1:c.3986T>C
|
ENSP00000495099.1:p.Val1329Ala
|
|
ENST00000642728.1:n.297T>C
|
|
|
ENST00000642797.1:c.3917T>C
|
ENSP00000493846.1:p.Val1306Ala
|
|
ENST00000642936.1:c.3983T>C
|
ENSP00000494514.1:p.Val1328Ala
|
|
ENST00000643088.1:c.3914T>C
|
ENSP00000494747.1:p.Val1305Ala
|
|
ENST00000643177.1:n.129T>C
|
|
|
ENST00000643426.1:n.1763T>C
|
|
|
ENST00000643946.1:c.4046T>C
|
ENSP00000495927.1:p.Val1349Ala
|
|
ENST00000644043.1:c.3986T>C
|
ENSP00000496262.1:p.Val1329Ala
|
|
ENST00000644329.1:c.3914T>C
|
ENSP00000496611.1:p.Val1305Ala
|
|
ENST00000644335.1:c.3917T>C
|
ENSP00000496317.1:p.Val1306Ala
|
|
ENST00000644399.1:c.4036T>C
|
|
|
ENST00000644417.2:c.*4495T>C
|
ENSP00000493912.2:n.*4495T>C
|
|
ENST00000645024.1:n.2199T>C
|
|
|
ENST00000645186.1:c.358T>C
|
|
|
ENST00000646388.1:c.4115T>C
|
ENSP00000495921.1:p.Val1372Ala
|
|
ENST00000646464.2:c.*6864T>C
|
ENSP00000496610.2:n.*6864T>C
|
|
ENST00000646634.1:n.2930T>C
|
|
|
ENST00000646674.1:n.1367T>C
|
|
|
ENST00000647042.1:n.1338T>C
|
|
|
ENST00000647180.1:n.1228T>C
|
|
|
XM_005255529.3:c.3986T>C
|
XP_005255586.2:p.Val1329Ala
|
|
XM_005255531.3:c.3917T>C
|
XP_005255588.2:p.Val1306Ala
|
|
XM_005255531.4:c.3917T>C
|
XP_005255588.2:p.Val1306Ala
|
|
XM_011522636.1:c.4169T>C
|
XP_011520938.1:p.Val1390Ala
|
|
XM_011522636.2:c.4169T>C
|
XP_011520938.1:p.Val1390Ala
|
|
XM_011522637.1:c.4166T>C
|
XP_011520939.1:p.Val1389Ala
|
|
XM_011522637.2:c.4166T>C
|
XP_011520939.1:p.Val1389Ala
|
|
XM_011522638.1:c.4058T>C
|
XP_011520940.1:p.Val1353Ala
|
|
XM_011522638.2:c.4331T>C
|
XP_011520940.2:p.Val1444Ala
|
|
XM_011522639.1:c.4040T>C
|
XP_011520941.1:p.Val1347Ala
|
|
XM_011522639.2:c.4040T>C
|
XP_011520941.1:p.Val1347Ala
|
|
XM_011522640.1:c.4037T>C
|
XP_011520942.1:p.Val1346Ala
|
|
XM_011522640.2:c.4037T>C
|
XP_011520942.1:p.Val1346Ala
|
|
XM_011522641.1:c.3806T>C
|
XP_011520943.1:p.Val1269Ala
|
|
XM_017023615.1:c.4112T>C
|
XP_016879104.1:p.Val1371Ala
|
|
XM_017023616.1:c.3983T>C
|
XP_016879105.1:p.Val1328Ala
|
|
XM_017023617.1:c.4079T>C
|
XP_016879106.1:p.Val1360Ala
|
|
XM_017023618.1:c.2825T>C
|
XP_016879107.1:p.Val942Ala
|
|
XM_024450413.1:c.3914T>C
|
XP_024306181.1:p.Val1305Ala
|
