|
ENST00000313771.10:n.1053T>G
|
|
|
|
ENST00000355740.8:c.*67T>G
|
ENSP00000347979.3:n.*67T>G
|
|
|
ENST00000357339.7:c.681T>G
|
ENSP00000349896.2:p.Phe227Leu
|
|
|
ENST00000371857.8:n.2289T>G
|
|
|
|
ENST00000460510.6:c.27T>G
|
ENSP00000512812.1:p.Phe9Leu
|
|
|
ENST00000466081.6:n.2393T>G
|
|
|
|
ENST00000477270.6:c.789T>G
|
ENSP00000512813.1:p.Phe263Leu
|
|
|
ENST00000479522.6:c.*173T>G
|
ENSP00000424113.1:n.*173T>G
|
|
|
ENST00000484444.6:c.*185T>G
|
ENSP00000420975.1:n.*185T>G
|
|
|
ENST00000488877.6:c.635T>G
|
ENSP00000425159.1:n.635T>G
|
|
|
ENST00000492756.7:c.*173T>G
|
ENSP00000422453.1:n.*173T>G
|
|
|
ENST00000494799.6:c.27T>G
|
ENSP00000512834.1:p.Phe9Leu
|
|
|
ENST00000562983.3:c.27T>G
|
ENSP00000512845.1:p.Phe9Leu
|
|
|
ENST00000612663.6:c.*146T>G
|
ENSP00000477997.3:n.*146T>G
|
|
|
ENST00000640140.2:n.889T>G
|
|
|
|
ENST00000640250.2:n.243T>G
|
|
|
|
ENST00000640681.2:n.848T>G
|
|
|
|
ENST00000696723.1:n.4377T>G
|
|
|
|
ENST00000696741.1:n.2382T>G
|
|
|
|
ENST00000696742.1:n.2109T>G
|
|
|
|
ENST00000696743.1:n.3512T>G
|
|
|
|
ENST00000696744.1:n.783T>G
|
|
|
|
ENST00000696767.1:n.1078T>G
|
|
|
|
ENST00000696768.1:c.*67T>G
|
ENSP00000512859.1:n.*67T>G
|
|
|
ENST00000696769.1:n.2433T>G
|
|
|
|
ENST00000696771.1:c.27T>G
|
ENSP00000512860.1:p.Phe9Leu
|
|
|
ENST00000696772.1:n.2347T>G
|
|
|
|
ENST00000696773.1:n.2086T>G
|
|
|
|
ENST00000696774.1:n.5854T>G
|
|
|
|
ENST00000696776.1:c.837T>G
|
ENSP00000512861.1:p.Phe279Leu
|
|
|
ENST00000696777.1:n.2152T>G
|
|
|
|
ENST00000696778.1:n.1180T>G
|
|
|
|
ENST00000696779.1:c.351T>G
|
ENSP00000512862.1:p.Phe117Leu
|
|
|
ENST00000696780.1:c.774T>G
|
ENSP00000512863.1:p.Phe258Leu
|
|
|
ENST00000696781.1:c.489T>G
|
ENSP00000512864.1:p.Phe163Leu
|
|
|
ENST00000696782.1:c.*146T>G
|
ENSP00000512865.1:n.*146T>G
|
|
|
ENST00000696783.1:n.2612T>G
|
|
|
|
ENST00000696992.1:n.1861T>G
|
|
|
|
ENST00000696995.1:n.4273T>G
|
|
|
|
ENST00000696996.1:n.2186T>G
|
|
|
|
ENST00000696997.1:c.*374T>G
|
ENSP00000513028.1:n.*374T>G
|
|
|
ENST00000696998.1:n.1998T>G
|
|
|
|
ENST00000696999.1:c.27T>G
|
ENSP00000513029.1:p.Phe9Leu
|
|
|
ENST00000697035.1:c.*77T>G
|
ENSP00000513059.1:n.*77T>G
|
|
|
ENST00000697036.1:c.*160T>G
|
ENSP00000513060.1:n.*160T>G
|
|
|
ENST00000697037.1:n.779T>G
|
|
|
|
ENST00000697093.1:n.2980T>G
|
|
|
|
ENST00000697094.1:n.3327T>G
|
|
|
|
ENST00000697095.1:c.*1945T>G
|
ENSP00000513104.1:n.*1945T>G
|
|
|
ENST00000697096.1:n.1877T>G
|
|
|
|
ENST00000697097.1:c.27T>G
|
ENSP00000513105.1:p.Phe9Leu
|
|
|
ENST00000562983.2:n.930T>G
|
|
|
|
ENST00000690268.1:c.825T>G
|
ENSP00000509810.1:p.Phe275Leu
|
|
|
ENST00000355740.7:c.*70T>G
|
ENSP00000347979.3:n.*70T>G
|
|
|
ENST00000612663.5:c.*146T>G
|
ENSP00000477997.3:n.*146T>G
|
|
|
ENST00000640140.1:n.916T>G
|
|
|
|
ENST00000640250.1:n.243T>G
|
|
|
|
ENST00000640681.1:n.865T>G
|
|
|
|
ENST00000652046.1:c.744T>G
MANE Select
|
ENSP00000498466.1:p.Phe248Leu
|
|
|
ENST00000352159.8:c.*61T>G
|
ENSP00000345601.4:n.*61T>G
|
|
|
ENST00000355279.2:c.719T>G
|
ENSP00000347426.2:n.719T>G
|
|
|
ENST00000355740.6:c.744T>G
|
ENSP00000347979.2:p.Phe248Leu
|
|
|
ENST00000357339.6:c.681T>G
|
ENSP00000349896.2:p.Phe227Leu
|
|
|
ENST00000479522.5:c.*173T>G
|
ENSP00000424113.1:n.*173T>G
|
|
|
ENST00000484444.5:c.*185T>G
|
ENSP00000420975.1:n.*185T>G
|
|
|
ENST00000488877.5:c.*185T>G
|
ENSP00000425159.1:n.*185T>G
|
|
|
ENST00000492756.5:c.572T>G
|
ENSP00000422453.1:n.572T>G
|
|
|
ENST00000494410.5:c.*102T>G
|
ENSP00000423755.1:n.*102T>G
|
|
|
ENST00000494799.5:n.651T>G
|
|
|
|
ENST00000612663.4:c.*91T>G
|
ENSP00000477997.2:n.*91T>G
|
|
|
ENST00000615406.4:c.744T>G
|
ENSP00000484575.1:p.Phe248Leu
|
|
|
NM_000043.4:c.744T>G , LRG_134t1:c.744T>G
|
NP_000034.1:p.Phe248Leu
|
|
|
NM_152871.2:c.681T>G
|
NP_690610.1:p.Phe227Leu
|
|
|
NM_152872.2:c.*56T>G
|
NP_690611.1:n.*56T>G
|
|
|
NR_028033.2:n.918T>G
|
|
|
|
NR_028034.2:n.780T>G
|
|
|
|
NR_028035.2:n.843T>G
|
|
|
|
NR_028036.2:n.981T>G
|
|
|
|
XM_006717819.2:c.825T>G
|
XP_006717882.1:p.Phe275Leu
|
|
|
XM_011539764.1:c.906T>G
|
XP_011538066.1:p.Phe302Leu
|
|
|
XM_011539765.1:c.843T>G
|
XP_011538067.1:p.Phe281Leu
|
|
|
XM_011539766.1:c.825T>G
|
XP_011538068.1:p.Phe275Leu
|
|
|
XM_011539767.1:c.789T>G
|
XP_011538069.1:p.Phe263Leu
|
|
|
XR_945732.1:n.812T>G
|
|
|
|
XR_945733.1:n.749T>G
|
|
|
|
NM_000043.5:c.744T>G
|
NP_000034.1:p.Phe248Leu
|
|
|
NM_001320619.1:c.*67T>G
|
NP_001307548.1:n.*67T>G
|
|
|
NM_152871.3:c.681T>G
|
NP_690610.1:p.Phe227Leu
|
|
|
NM_152872.3:c.*56T>G
|
NP_690611.1:n.*56T>G
|
|
|
NR_028033.3:n.890T>G
|
|
|
|
NR_028034.3:n.752T>G
|
|
|
|
NR_028035.3:n.815T>G
|
|
|
|
NR_028036.3:n.953T>G
|
|
|
|
NR_135313.1:n.870T>G
|
|
|
|
NR_135314.1:n.1053T>G
|
|
|
|
NR_135315.1:n.806T>G
|
|
|
|
XM_006717819.3:c.825T>G
|
XP_006717882.1:p.Phe275Leu
|
|
|
XM_011539764.2:c.906T>G
|
XP_011538066.1:p.Phe302Leu
|
|
|
XM_011539765.2:c.843T>G
|
XP_011538067.1:p.Phe281Leu
|
|
|
XM_011539766.2:c.825T>G
|
XP_011538068.1:p.Phe275Leu
|
|
|
XM_011539767.3:c.789T>G
|
XP_011538069.1:p.Phe263Leu
|
|
|
XR_945732.3:n.812T>G
|
|
|
|
XR_945733.2:n.749T>G
|
|
|
|
NM_000043.6:c.744T>G
MANE Select
|
NP_000034.1:p.Phe248Leu
|
|
|
NM_001320619.2:c.*67T>G
|
NP_001307548.1:n.*67T>G
|
|
|
NM_152871.4:c.681T>G
|
NP_690610.1:p.Phe227Leu
|
|
|
NM_152872.4:c.*56T>G
|
NP_690611.1:n.*56T>G
|
|
|
NR_028033.4:n.651T>G
|
|
|
|
NR_028034.4:n.513T>G
|
|
|
|
NR_028035.4:n.576T>G
|
|
|
|
NR_028036.4:n.714T>G
|
|
|
|
NR_135313.2:n.631T>G
|
|
|
|
NR_135314.2:n.910T>G
|
|
|
|
NR_135315.2:n.663T>G
|
|
|
