|
ENST00000313771.10:n.1127A>G
|
|
|
|
ENST00000355740.8:c.*141A>G
|
ENSP00000347979.3:n.*141A>G
|
|
|
ENST00000357339.7:c.755A>G
|
ENSP00000349896.2:p.Gln252Arg
|
|
|
ENST00000371857.8:n.2363A>G
|
|
|
|
ENST00000460510.6:c.101A>G
|
ENSP00000512812.1:p.Gln34Arg
|
|
|
ENST00000466081.6:n.2467A>G
|
|
|
|
ENST00000477270.6:c.863A>G
|
ENSP00000512813.1:p.Gln288Arg
|
|
|
ENST00000479522.6:c.*247A>G
|
ENSP00000424113.1:n.*247A>G
|
|
|
ENST00000484444.6:c.*259A>G
|
ENSP00000420975.1:n.*259A>G
|
|
|
ENST00000488877.6:c.709A>G
|
ENSP00000425159.1:n.709A>G
|
|
|
ENST00000492756.7:c.*247A>G
|
ENSP00000422453.1:n.*247A>G
|
|
|
ENST00000494799.6:c.101A>G
|
ENSP00000512834.1:p.Gln34Arg
|
|
|
ENST00000562983.3:c.101A>G
|
ENSP00000512845.1:p.Gln34Arg
|
|
|
ENST00000612663.6:c.*220A>G
|
ENSP00000477997.3:n.*220A>G
|
|
|
ENST00000640140.2:n.963A>G
|
|
|
|
ENST00000640250.2:n.317A>G
|
|
|
|
ENST00000640681.2:n.922A>G
|
|
|
|
ENST00000696723.1:n.4451A>G
|
|
|
|
ENST00000696741.1:n.2456A>G
|
|
|
|
ENST00000696742.1:n.2183A>G
|
|
|
|
ENST00000696743.1:n.3586A>G
|
|
|
|
ENST00000696744.1:n.857A>G
|
|
|
|
ENST00000696767.1:n.1152A>G
|
|
|
|
ENST00000696768.1:c.*141A>G
|
ENSP00000512859.1:n.*141A>G
|
|
|
ENST00000696769.1:n.2507A>G
|
|
|
|
ENST00000696771.1:c.101A>G
|
ENSP00000512860.1:p.Gln34Arg
|
|
|
ENST00000696772.1:n.2421A>G
|
|
|
|
ENST00000696773.1:n.2160A>G
|
|
|
|
ENST00000696774.1:n.5928A>G
|
|
|
|
ENST00000696776.1:c.911A>G
|
ENSP00000512861.1:p.Gln304Arg
|
|
|
ENST00000696777.1:n.2226A>G
|
|
|
|
ENST00000696778.1:n.1254A>G
|
|
|
|
ENST00000696779.1:c.425A>G
|
ENSP00000512862.1:p.Gln142Arg
|
|
|
ENST00000696780.1:c.848A>G
|
ENSP00000512863.1:p.Gln283Arg
|
|
|
ENST00000696781.1:c.563A>G
|
ENSP00000512864.1:p.Gln188Arg
|
|
|
ENST00000696782.1:c.*220A>G
|
ENSP00000512865.1:n.*220A>G
|
|
|
ENST00000696783.1:n.2686A>G
|
|
|
|
ENST00000696992.1:n.1935A>G
|
|
|
|
ENST00000696995.1:n.4347A>G
|
|
|
|
ENST00000696996.1:n.2260A>G
|
|
|
|
ENST00000696997.1:c.*448A>G
|
ENSP00000513028.1:n.*448A>G
|
|
|
ENST00000696998.1:n.2072A>G
|
|
|
|
ENST00000696999.1:c.101A>G
|
ENSP00000513029.1:p.Gln34Arg
|
|
|
ENST00000697035.1:c.*151A>G
|
ENSP00000513059.1:n.*151A>G
|
|
|
ENST00000697036.1:c.*234A>G
|
ENSP00000513060.1:n.*234A>G
|
|
|
ENST00000697037.1:n.853A>G
|
|
|
|
ENST00000697093.1:n.3054A>G
|
|
|
|
ENST00000697094.1:n.3401A>G
|
|
|
|
ENST00000697095.1:c.*2019A>G
|
ENSP00000513104.1:n.*2019A>G
|
|
|
ENST00000697096.1:n.1951A>G
|
|
|
|
ENST00000697097.1:c.101A>G
|
ENSP00000513105.1:p.Gln34Arg
|
|
|
ENST00000562983.2:n.1004A>G
|
|
|
|
ENST00000690268.1:c.899A>G
|
ENSP00000509810.1:p.Gln300Arg
|
|
|
ENST00000355740.7:c.*144A>G
|
ENSP00000347979.3:n.*144A>G
|
|
|
ENST00000612663.5:c.*220A>G
|
ENSP00000477997.3:n.*220A>G
|
|
|
ENST00000640140.1:n.990A>G
|
|
|
|
ENST00000640250.1:n.317A>G
|
|
|
|
ENST00000640681.1:n.939A>G
|
|
|
|
ENST00000652046.1:c.818A>G
MANE Select
|
ENSP00000498466.1:p.Gln273Arg
|
|
|
ENST00000352159.8:c.*135A>G
|
ENSP00000345601.4:n.*135A>G
|
|
|
ENST00000355279.2:c.793A>G
|
ENSP00000347426.2:n.793A>G
|
|
|
ENST00000355740.6:c.818A>G
|
ENSP00000347979.2:p.Gln273Arg
|
|
|
ENST00000357339.6:c.755A>G
|
ENSP00000349896.2:p.Gln252Arg
|
|
|
ENST00000479522.5:c.*247A>G
|
ENSP00000424113.1:n.*247A>G
|
|
|
ENST00000484444.5:c.*259A>G
|
ENSP00000420975.1:n.*259A>G
|
|
|
ENST00000488877.5:c.*259A>G
|
ENSP00000425159.1:n.*259A>G
|
|
|
ENST00000492756.5:c.646A>G
|
ENSP00000422453.1:n.646A>G
|
|
|
ENST00000494410.5:c.*176A>G
|
ENSP00000423755.1:n.*176A>G
|
|
|
ENST00000612663.4:c.*165A>G
|
ENSP00000477997.2:n.*165A>G
|
|
|
NM_000043.4:c.818A>G , LRG_134t1:c.818A>G
|
NP_000034.1:p.Gln273Arg
|
|
|
NM_152871.2:c.755A>G
|
NP_690610.1:p.Gln252Arg
|
|
|
NM_152872.2:c.*130A>G
|
NP_690611.1:n.*130A>G
|
|
|
NR_028033.2:n.992A>G
|
|
|
|
NR_028034.2:n.854A>G
|
|
|
|
NR_028035.2:n.917A>G
|
|
|
|
NR_028036.2:n.1055A>G
|
|
|
|
XM_006717819.2:c.899A>G
|
XP_006717882.1:p.Gln300Arg
|
|
|
XM_011539764.1:c.980A>G
|
XP_011538066.1:p.Gln327Arg
|
|
|
XM_011539765.1:c.917A>G
|
XP_011538067.1:p.Gln306Arg
|
|
|
XM_011539766.1:c.899A>G
|
XP_011538068.1:p.Gln300Arg
|
|
|
XM_011539767.1:c.863A>G
|
XP_011538069.1:p.Gln288Arg
|
|
|
XR_945732.1:n.886A>G
|
|
|
|
XR_945733.1:n.823A>G
|
|
|
|
NM_000043.5:c.818A>G
|
NP_000034.1:p.Gln273Arg
|
|
|
NM_001320619.1:c.*141A>G
|
NP_001307548.1:n.*141A>G
|
|
|
NM_152871.3:c.755A>G
|
NP_690610.1:p.Gln252Arg
|
|
|
NM_152872.3:c.*130A>G
|
NP_690611.1:n.*130A>G
|
|
|
NR_028033.3:n.964A>G
|
|
|
|
NR_028034.3:n.826A>G
|
|
|
|
NR_028035.3:n.889A>G
|
|
|
|
NR_028036.3:n.1027A>G
|
|
|
|
NR_135313.1:n.944A>G
|
|
|
|
NR_135314.1:n.1127A>G
|
|
|
|
NR_135315.1:n.880A>G
|
|
|
|
XM_006717819.3:c.899A>G
|
XP_006717882.1:p.Gln300Arg
|
|
|
XM_011539764.2:c.980A>G
|
XP_011538066.1:p.Gln327Arg
|
|
|
XM_011539765.2:c.917A>G
|
XP_011538067.1:p.Gln306Arg
|
|
|
XM_011539766.2:c.899A>G
|
XP_011538068.1:p.Gln300Arg
|
|
|
XM_011539767.3:c.863A>G
|
XP_011538069.1:p.Gln288Arg
|
|
|
XR_945732.3:n.886A>G
|
|
|
|
XR_945733.2:n.823A>G
|
|
|
|
NM_000043.6:c.818A>G
MANE Select
|
NP_000034.1:p.Gln273Arg
|
|
|
NM_001320619.2:c.*141A>G
|
NP_001307548.1:n.*141A>G
|
|
|
NM_152871.4:c.755A>G
|
NP_690610.1:p.Gln252Arg
|
|
|
NM_152872.4:c.*130A>G
|
NP_690611.1:n.*130A>G
|
|
|
NR_028033.4:n.725A>G
|
|
|
|
NR_028034.4:n.587A>G
|
|
|
|
NR_028035.4:n.650A>G
|
|
|
|
NR_028036.4:n.788A>G
|
|
|
|
NR_135313.2:n.705A>G
|
|
|
|
NR_135314.2:n.984A>G
|
|
|
|
NR_135315.2:n.737A>G
|
|
|
