ENST00000313771.10:n.1157A>T
|
|
|
ENST00000355740.8:c.*171A>T
|
ENSP00000347979.3:n.*171A>T
|
|
ENST00000357339.7:c.785A>T
|
ENSP00000349896.2:p.Gln262Leu
|
|
ENST00000371857.8:n.2393A>T
|
|
|
ENST00000460510.6:c.131A>T
|
ENSP00000512812.1:p.Gln44Leu
|
|
ENST00000466081.6:n.2497A>T
|
|
|
ENST00000477270.6:c.893A>T
|
ENSP00000512813.1:p.Gln298Leu
|
|
ENST00000479522.6:c.*277A>T
|
ENSP00000424113.1:n.*277A>T
|
|
ENST00000484444.6:c.*289A>T
|
ENSP00000420975.1:n.*289A>T
|
|
ENST00000488877.6:c.739A>T
|
ENSP00000425159.1:n.739A>T
|
|
ENST00000492756.7:c.*277A>T
|
ENSP00000422453.1:n.*277A>T
|
|
ENST00000494799.6:c.131A>T
|
ENSP00000512834.1:p.Gln44Leu
|
|
ENST00000562983.3:c.131A>T
|
ENSP00000512845.1:p.Gln44Leu
|
|
ENST00000612663.6:c.*250A>T
|
ENSP00000477997.3:n.*250A>T
|
|
ENST00000640140.2:n.993A>T
|
|
|
ENST00000640250.2:n.347A>T
|
|
|
ENST00000640681.2:n.952A>T
|
|
|
ENST00000696723.1:n.4481A>T
|
|
|
ENST00000696741.1:n.2486A>T
|
|
|
ENST00000696742.1:n.2213A>T
|
|
|
ENST00000696743.1:n.3616A>T
|
|
|
ENST00000696744.1:n.887A>T
|
|
|
ENST00000696767.1:n.1182A>T
|
|
|
ENST00000696768.1:c.*171A>T
|
ENSP00000512859.1:n.*171A>T
|
|
ENST00000696769.1:n.2537A>T
|
|
|
ENST00000696771.1:c.131A>T
|
ENSP00000512860.1:p.Gln44Leu
|
|
ENST00000696772.1:n.2451A>T
|
|
|
ENST00000696773.1:n.2190A>T
|
|
|
ENST00000696774.1:n.5958A>T
|
|
|
ENST00000696776.1:c.941A>T
|
ENSP00000512861.1:p.Gln314Leu
|
|
ENST00000696777.1:n.2256A>T
|
|
|
ENST00000696778.1:n.1284A>T
|
|
|
ENST00000696779.1:c.455A>T
|
ENSP00000512862.1:p.Gln152Leu
|
|
ENST00000696780.1:c.878A>T
|
ENSP00000512863.1:p.Gln293Leu
|
|
ENST00000696781.1:c.593A>T
|
ENSP00000512864.1:p.Gln198Leu
|
|
ENST00000696782.1:c.*250A>T
|
ENSP00000512865.1:n.*250A>T
|
|
ENST00000696783.1:n.2716A>T
|
|
|
ENST00000696992.1:n.1965A>T
|
|
|
ENST00000696995.1:n.4377A>T
|
|
|
ENST00000696996.1:n.2290A>T
|
|
|
ENST00000696997.1:c.*478A>T
|
ENSP00000513028.1:n.*478A>T
|
|
ENST00000696998.1:n.2102A>T
|
|
|
ENST00000696999.1:c.131A>T
|
ENSP00000513029.1:p.Gln44Leu
|
|
ENST00000697035.1:c.*181A>T
|
ENSP00000513059.1:n.*181A>T
|
|
ENST00000697036.1:c.*264A>T
|
ENSP00000513060.1:n.*264A>T
|
|
ENST00000697037.1:n.883A>T
|
|
|
ENST00000697093.1:n.3084A>T
|
|
|
ENST00000697094.1:n.3431A>T
|
|
|
ENST00000697095.1:c.*2049A>T
|
ENSP00000513104.1:n.*2049A>T
|
|
ENST00000697096.1:n.1981A>T
|
|
|
ENST00000697097.1:c.131A>T
|
ENSP00000513105.1:p.Gln44Leu
|
|
ENST00000562983.2:n.1034A>T
|
|
|
ENST00000690268.1:c.929A>T
|
ENSP00000509810.1:p.Gln310Leu
|
|
ENST00000355740.7:c.*174A>T
|
ENSP00000347979.3:n.*174A>T
|
|
ENST00000612663.5:c.*250A>T
|
ENSP00000477997.3:n.*250A>T
|
|
ENST00000640140.1:n.1020A>T
|
|
|
ENST00000640250.1:n.347A>T
|
|
|
ENST00000640681.1:n.969A>T
|
|
|
ENST00000652046.1:c.848A>T
MANE Select
|
ENSP00000498466.1:p.Gln283Leu
|
|
ENST00000352159.8:c.*165A>T
|
ENSP00000345601.4:n.*165A>T
|
|
ENST00000355279.2:c.823A>T
|
ENSP00000347426.2:n.823A>T
|
|
ENST00000355740.6:c.848A>T
|
ENSP00000347979.2:p.Gln283Leu
|
|
ENST00000357339.6:c.785A>T
|
ENSP00000349896.2:p.Gln262Leu
|
|
ENST00000479522.5:c.*277A>T
|
ENSP00000424113.1:n.*277A>T
|
|
ENST00000484444.5:c.*289A>T
|
ENSP00000420975.1:n.*289A>T
|
|
ENST00000488877.5:c.*289A>T
|
ENSP00000425159.1:n.*289A>T
|
|
ENST00000492756.5:c.676A>T
|
ENSP00000422453.1:n.676A>T
|
|
ENST00000494410.5:c.*206A>T
|
ENSP00000423755.1:n.*206A>T
|
|
ENST00000612663.4:c.*195A>T
|
ENSP00000477997.2:n.*195A>T
|
|
NM_000043.4:c.848A>T , LRG_134t1:c.848A>T
|
NP_000034.1:p.Gln283Leu
|
|
NM_152871.2:c.785A>T
|
NP_690610.1:p.Gln262Leu
|
|
NM_152872.2:c.*160A>T
|
NP_690611.1:n.*160A>T
|
|
NR_028033.2:n.1022A>T
|
|
|
NR_028034.2:n.884A>T
|
|
|
NR_028035.2:n.947A>T
|
|
|
NR_028036.2:n.1085A>T
|
|
|
XM_006717819.2:c.929A>T
|
XP_006717882.1:p.Gln310Leu
|
|
XM_011539764.1:c.1010A>T
|
XP_011538066.1:p.Gln337Leu
|
|
XM_011539765.1:c.947A>T
|
XP_011538067.1:p.Gln316Leu
|
|
XM_011539766.1:c.929A>T
|
XP_011538068.1:p.Gln310Leu
|
|
XM_011539767.1:c.893A>T
|
XP_011538069.1:p.Gln298Leu
|
|
XR_945732.1:n.916A>T
|
|
|
XR_945733.1:n.853A>T
|
|
|
NM_000043.5:c.848A>T
|
NP_000034.1:p.Gln283Leu
|
|
NM_001320619.1:c.*171A>T
|
NP_001307548.1:n.*171A>T
|
|
NM_152871.3:c.785A>T
|
NP_690610.1:p.Gln262Leu
|
|
NM_152872.3:c.*160A>T
|
NP_690611.1:n.*160A>T
|
|
NR_028033.3:n.994A>T
|
|
|
NR_028034.3:n.856A>T
|
|
|
NR_028035.3:n.919A>T
|
|
|
NR_028036.3:n.1057A>T
|
|
|
NR_135313.1:n.974A>T
|
|
|
NR_135314.1:n.1157A>T
|
|
|
NR_135315.1:n.910A>T
|
|
|
XM_006717819.3:c.929A>T
|
XP_006717882.1:p.Gln310Leu
|
|
XM_011539764.2:c.1010A>T
|
XP_011538066.1:p.Gln337Leu
|
|
XM_011539765.2:c.947A>T
|
XP_011538067.1:p.Gln316Leu
|
|
XM_011539766.2:c.929A>T
|
XP_011538068.1:p.Gln310Leu
|
|
XM_011539767.3:c.893A>T
|
XP_011538069.1:p.Gln298Leu
|
|
XR_945732.3:n.916A>T
|
|
|
XR_945733.2:n.853A>T
|
|
|
NM_000043.6:c.848A>T
MANE Select
|
NP_000034.1:p.Gln283Leu
|
|
NM_001320619.2:c.*171A>T
|
NP_001307548.1:n.*171A>T
|
|
NM_152871.4:c.785A>T
|
NP_690610.1:p.Gln262Leu
|
|
NM_152872.4:c.*160A>T
|
NP_690611.1:n.*160A>T
|
|
NR_028033.4:n.755A>T
|
|
|
NR_028034.4:n.617A>T
|
|
|
NR_028035.4:n.680A>T
|
|
|
NR_028036.4:n.818A>T
|
|
|
NR_135313.2:n.735A>T
|
|
|
NR_135314.2:n.1014A>T
|
|
|
NR_135315.2:n.767A>T
|
|
|