|
ENST00000313771.10:n.1031C>G
|
|
|
|
ENST00000355740.8:c.*45C>G
|
ENSP00000347979.3:n.*45C>G
|
|
|
ENST00000357339.7:c.659C>G
|
ENSP00000349896.2:p.Thr220Arg
|
|
|
ENST00000371857.8:n.2267C>G
|
|
|
|
ENST00000460510.6:c.5C>G
|
ENSP00000512812.1:p.Thr2Arg
|
|
|
ENST00000466081.6:n.2371C>G
|
|
|
|
ENST00000477270.6:c.767C>G
|
ENSP00000512813.1:p.Thr256Arg
|
|
|
ENST00000479522.6:c.*151C>G
|
ENSP00000424113.1:n.*151C>G
|
|
|
ENST00000484444.6:c.*163C>G
|
ENSP00000420975.1:n.*163C>G
|
|
|
ENST00000488877.6:c.613C>G
|
ENSP00000425159.1:n.613C>G
|
|
|
ENST00000492756.7:c.*151C>G
|
ENSP00000422453.1:n.*151C>G
|
|
|
ENST00000494799.6:c.5C>G
|
ENSP00000512834.1:p.Thr2Arg
|
|
|
ENST00000562983.3:c.5C>G
|
ENSP00000512845.1:p.Thr2Arg
|
|
|
ENST00000612663.6:c.*124C>G
|
ENSP00000477997.3:n.*124C>G
|
|
|
ENST00000640140.2:n.867C>G
|
|
|
|
ENST00000640250.2:n.221C>G
|
|
|
|
ENST00000640681.2:n.826C>G
|
|
|
|
ENST00000696723.1:n.4355C>G
|
|
|
|
ENST00000696741.1:n.2360C>G
|
|
|
|
ENST00000696742.1:n.2087C>G
|
|
|
|
ENST00000696743.1:n.3490C>G
|
|
|
|
ENST00000696744.1:n.761C>G
|
|
|
|
ENST00000696767.1:n.1056C>G
|
|
|
|
ENST00000696768.1:c.*45C>G
|
ENSP00000512859.1:n.*45C>G
|
|
|
ENST00000696769.1:n.2411C>G
|
|
|
|
ENST00000696771.1:c.5C>G
|
ENSP00000512860.1:p.Thr2Arg
|
|
|
ENST00000696772.1:n.2325C>G
|
|
|
|
ENST00000696773.1:n.2064C>G
|
|
|
|
ENST00000696774.1:n.5832C>G
|
|
|
|
ENST00000696776.1:c.815C>G
|
ENSP00000512861.1:p.Thr272Arg
|
|
|
ENST00000696777.1:n.2130C>G
|
|
|
|
ENST00000696778.1:n.1158C>G
|
|
|
|
ENST00000696779.1:c.329C>G
|
ENSP00000512862.1:p.Thr110Arg
|
|
|
ENST00000696780.1:c.752C>G
|
ENSP00000512863.1:p.Thr251Arg
|
|
|
ENST00000696781.1:c.467C>G
|
ENSP00000512864.1:p.Thr156Arg
|
|
|
ENST00000696782.1:c.*124C>G
|
ENSP00000512865.1:n.*124C>G
|
|
|
ENST00000696783.1:n.2590C>G
|
|
|
|
ENST00000696992.1:n.1839C>G
|
|
|
|
ENST00000696995.1:n.4251C>G
|
|
|
|
ENST00000696996.1:n.2164C>G
|
|
|
|
ENST00000696997.1:c.*352C>G
|
ENSP00000513028.1:n.*352C>G
|
|
|
ENST00000696998.1:n.1976C>G
|
|
|
|
ENST00000696999.1:c.5C>G
|
ENSP00000513029.1:p.Thr2Arg
|
|
|
ENST00000697035.1:c.*55C>G
|
ENSP00000513059.1:n.*55C>G
|
|
|
ENST00000697036.1:c.*138C>G
|
ENSP00000513060.1:n.*138C>G
|
|
|
ENST00000697037.1:n.757C>G
|
|
|
|
ENST00000697093.1:n.2958C>G
|
|
|
|
ENST00000697094.1:n.3305C>G
|
|
|
|
ENST00000697095.1:c.*1923C>G
|
ENSP00000513104.1:n.*1923C>G
|
|
|
ENST00000697096.1:n.1855C>G
|
|
|
|
ENST00000697097.1:c.5C>G
|
ENSP00000513105.1:p.Thr2Arg
|
|
|
ENST00000562983.2:n.908C>G
|
|
|
|
ENST00000690268.1:c.803C>G
|
ENSP00000509810.1:p.Thr268Arg
|
|
|
ENST00000355740.7:c.*48C>G
|
ENSP00000347979.3:n.*48C>G
|
|
|
ENST00000612663.5:c.*124C>G
|
ENSP00000477997.3:n.*124C>G
|
|
|
ENST00000640140.1:n.894C>G
|
|
|
|
ENST00000640250.1:n.221C>G
|
|
|
|
ENST00000640681.1:n.843C>G
|
|
|
|
ENST00000652046.1:c.722C>G
MANE Select
|
ENSP00000498466.1:p.Thr241Arg
|
|
|
ENST00000313771.9:n.1031C>G
|
|
|
|
ENST00000352159.8:c.*39C>G
|
ENSP00000345601.4:n.*39C>G
|
|
|
ENST00000355279.2:c.697C>G
|
ENSP00000347426.2:n.697C>G
|
|
|
ENST00000355740.6:c.722C>G
|
ENSP00000347979.2:p.Thr241Arg
|
|
|
ENST00000357339.6:c.659C>G
|
ENSP00000349896.2:p.Thr220Arg
|
|
|
ENST00000479522.5:c.*151C>G
|
ENSP00000424113.1:n.*151C>G
|
|
|
ENST00000484444.5:c.*163C>G
|
ENSP00000420975.1:n.*163C>G
|
|
|
ENST00000488877.5:c.*163C>G
|
ENSP00000425159.1:n.*163C>G
|
|
|
ENST00000492756.5:c.550C>G
|
ENSP00000422453.1:n.550C>G
|
|
|
ENST00000494410.5:c.*80C>G
|
ENSP00000423755.1:n.*80C>G
|
|
|
ENST00000494799.5:n.629C>G
|
|
|
|
ENST00000612663.4:c.*69C>G
|
ENSP00000477997.2:n.*69C>G
|
|
|
ENST00000615406.4:c.722C>G
|
ENSP00000484575.1:p.Thr241Arg
|
|
|
ENST00000626542.2:c.720C>G
|
ENSP00000485876.1:p.Asp240Glu
|
|
|
NM_000043.4:c.722C>G , LRG_134t1:c.722C>G
|
NP_000034.1:p.Thr241Arg
|
|
|
NM_152871.2:c.659C>G
|
NP_690610.1:p.Thr220Arg
|
|
|
NM_152872.2:c.*34C>G
|
NP_690611.1:n.*34C>G
|
|
|
NR_028033.2:n.896C>G
|
|
|
|
NR_028034.2:n.758C>G
|
|
|
|
NR_028035.2:n.821C>G
|
|
|
|
NR_028036.2:n.959C>G
|
|
|
|
XM_006717819.2:c.803C>G
|
XP_006717882.1:p.Thr268Arg
|
|
|
XM_011539764.1:c.884C>G
|
XP_011538066.1:p.Thr295Arg
|
|
|
XM_011539765.1:c.821C>G
|
XP_011538067.1:p.Thr274Arg
|
|
|
XM_011539766.1:c.803C>G
|
XP_011538068.1:p.Thr268Arg
|
|
|
XM_011539767.1:c.767C>G
|
XP_011538069.1:p.Thr256Arg
|
|
|
XR_945732.1:n.790C>G
|
|
|
|
XR_945733.1:n.727C>G
|
|
|
|
NM_000043.5:c.722C>G
|
NP_000034.1:p.Thr241Arg
|
|
|
NM_001320619.1:c.*45C>G
|
NP_001307548.1:n.*45C>G
|
|
|
NM_152871.3:c.659C>G
|
NP_690610.1:p.Thr220Arg
|
|
|
NM_152872.3:c.*34C>G
|
NP_690611.1:n.*34C>G
|
|
|
NR_028033.3:n.868C>G
|
|
|
|
NR_028034.3:n.730C>G
|
|
|
|
NR_028035.3:n.793C>G
|
|
|
|
NR_028036.3:n.931C>G
|
|
|
|
NR_135313.1:n.848C>G
|
|
|
|
NR_135314.1:n.1031C>G
|
|
|
|
NR_135315.1:n.784C>G
|
|
|
|
XM_006717819.3:c.803C>G
|
XP_006717882.1:p.Thr268Arg
|
|
|
XM_011539764.2:c.884C>G
|
XP_011538066.1:p.Thr295Arg
|
|
|
XM_011539765.2:c.821C>G
|
XP_011538067.1:p.Thr274Arg
|
|
|
XM_011539766.2:c.803C>G
|
XP_011538068.1:p.Thr268Arg
|
|
|
XM_011539767.3:c.767C>G
|
XP_011538069.1:p.Thr256Arg
|
|
|
XR_945732.3:n.790C>G
|
|
|
|
XR_945733.2:n.727C>G
|
|
|
|
NM_000043.6:c.722C>G
MANE Select
|
NP_000034.1:p.Thr241Arg
|
|
|
NM_001320619.2:c.*45C>G
|
NP_001307548.1:n.*45C>G
|
|
|
NM_152871.4:c.659C>G
|
NP_690610.1:p.Thr220Arg
|
|
|
NM_152872.4:c.*34C>G
|
NP_690611.1:n.*34C>G
|
|
|
NR_028033.4:n.629C>G
|
|
|
|
NR_028034.4:n.491C>G
|
|
|
|
NR_028035.4:n.554C>G
|
|
|
|
NR_028036.4:n.692C>G
|
|
|
|
NR_135313.2:n.609C>G
|
|
|
|
NR_135314.2:n.888C>G
|
|
|
|
NR_135315.2:n.641C>G
|
|
|
