|
ENST00000313771.10:n.845T>G
|
|
|
|
ENST00000355740.8:c.536T>G
|
ENSP00000347979.3:p.Leu179Arg
|
|
|
ENST00000357339.7:c.505+183T>G
|
ENSP00000349896.2:n.505+183T>G
|
|
|
ENST00000371857.8:n.898T>G
|
|
|
|
ENST00000460510.6:c.-182T>G
|
ENSP00000512812.1:n.-182T>G
|
|
|
ENST00000466081.6:n.748T>G
|
|
|
|
ENST00000477270.6:c.581T>G
|
ENSP00000512813.1:p.Leu194Arg
|
|
|
ENST00000479522.6:c.258+183T>G
|
ENSP00000424113.1:n.258+183T>G
|
|
|
ENST00000484444.6:c.289T>G
|
ENSP00000420975.1:p.Phe97Val
|
|
|
ENST00000488877.6:c.427T>G
|
ENSP00000425159.1:p.Phe143Val
|
|
|
ENST00000492756.7:c.396+183T>G
|
ENSP00000422453.1:n.396+183T>G
|
|
|
ENST00000494799.6:c.-182T>G
|
ENSP00000512834.1:n.-182T>G
|
|
|
ENST00000562983.3:c.-182T>G
|
ENSP00000512845.1:n.-182T>G
|
|
|
ENST00000612663.6:c.536T>G
|
ENSP00000477997.3:p.Leu179Arg
|
|
|
ENST00000640140.2:n.681T>G
|
|
|
|
ENST00000640681.2:n.640T>G
|
|
|
|
ENST00000696723.1:n.4169T>G
|
|
|
|
ENST00000696741.1:n.991T>G
|
|
|
|
ENST00000696742.1:n.718T>G
|
|
|
|
ENST00000696743.1:n.860T>G
|
|
|
|
ENST00000696744.1:n.575T>G
|
|
|
|
ENST00000696767.1:n.870T>G
|
|
|
|
ENST00000696768.1:c.505+183T>G
|
ENSP00000512859.1:n.505+183T>G
|
|
|
ENST00000696769.1:n.1042T>G
|
|
|
|
ENST00000696770.1:n.3463T>G
|
|
|
|
ENST00000696771.1:c.-150+183T>G
|
ENSP00000512860.1:n.-150+183T>G
|
|
|
ENST00000696772.1:n.702T>G
|
|
|
|
ENST00000696773.1:n.695T>G
|
|
|
|
ENST00000696774.1:n.2451T>G
|
|
|
|
ENST00000696776.1:c.629T>G
|
ENSP00000512861.1:p.Leu210Arg
|
|
|
ENST00000696777.1:n.761T>G
|
|
|
|
ENST00000696778.1:n.718T>G
|
|
|
|
ENST00000696779.1:c.258+183T>G
|
ENSP00000512862.1:n.258+183T>G
|
|
|
ENST00000696780.1:c.598+183T>G
|
ENSP00000512863.1:n.598+183T>G
|
|
|
ENST00000696781.1:c.396+183T>G
|
ENSP00000512864.1:n.396+183T>G
|
|
|
ENST00000696782.1:c.505+183T>G
|
ENSP00000512865.1:n.505+183T>G
|
|
|
ENST00000696783.1:n.1221T>G
|
|
|
|
ENST00000696992.1:n.1653T>G
|
|
|
|
ENST00000696995.1:n.870T>G
|
|
|
|
ENST00000696996.1:n.717T>G
|
|
|
|
ENST00000696997.1:c.*166T>G
|
ENSP00000513028.1:n.*166T>G
|
|
|
ENST00000696998.1:n.607T>G
|
|
|
|
ENST00000696999.1:c.-150+183T>G
|
ENSP00000513029.1:n.-150+183T>G
|
|
|
ENST00000697035.1:c.536T>G
|
ENSP00000513059.1:p.Leu179Arg
|
|
|
ENST00000697036.1:c.427T>G
|
ENSP00000513060.1:p.Phe143Val
|
|
|
ENST00000697037.1:n.571T>G
|
|
|
|
ENST00000697093.1:n.760T>G
|
|
|
|
ENST00000697094.1:n.675T>G
|
|
|
|
ENST00000697095.1:c.*1737T>G
|
ENSP00000513104.1:n.*1737T>G
|
|
|
ENST00000697096.1:n.744T>G
|
|
|
|
ENST00000697097.1:c.-182T>G
|
ENSP00000513105.1:n.-182T>G
|
|
|
ENST00000562983.2:n.722T>G
|
|
|
|
ENST00000690268.1:c.617T>G
|
ENSP00000509810.1:p.Leu206Arg
|
|
|
ENST00000355740.7:c.536T>G
|
ENSP00000347979.3:p.Leu179Arg
|
|
|
ENST00000612663.5:c.536T>G
|
ENSP00000477997.3:p.Leu179Arg
|
|
|
ENST00000640140.1:n.708T>G
|
|
|
|
ENST00000640681.1:n.657T>G
|
|
|
|
ENST00000652046.1:c.536T>G
MANE Select
|
ENSP00000498466.1:p.Leu179Arg
|
|
|
ENST00000313771.9:n.845T>G
|
|
|
|
ENST00000352159.8:c.536T>G
|
ENSP00000345601.4:p.Leu179Arg
|
|
|
ENST00000355279.2:c.536T>G
|
ENSP00000347426.2:p.Leu179Arg
|
|
|
ENST00000355740.6:c.536T>G
|
ENSP00000347979.2:p.Leu179Arg
|
|
|
ENST00000357339.6:c.505+183T>G
|
ENSP00000349896.2:n.505+183T>G
|
|
|
ENST00000371857.7:n.854T>G
|
|
|
|
ENST00000477270.5:n.699T>G
|
|
|
|
ENST00000479522.5:c.258+183T>G
|
ENSP00000424113.1:n.258+183T>G
|
|
|
ENST00000484444.5:c.289T>G
|
ENSP00000420975.1:p.Phe97Val
|
|
|
ENST00000487314.1:n.685T>G
|
|
|
|
ENST00000488877.5:c.427T>G
|
ENSP00000425159.1:p.Phe143Val
|
|
|
ENST00000492756.5:c.396+183T>G
|
ENSP00000422453.1:n.396+183T>G
|
|
|
ENST00000494410.5:c.427T>G
|
ENSP00000423755.1:p.Phe143Val
|
|
|
ENST00000494799.5:n.443T>G
|
|
|
|
ENST00000612663.4:c.536T>G
|
ENSP00000477997.2:p.Leu179Arg
|
|
|
ENST00000615406.4:c.536T>G
|
ENSP00000484575.1:p.Leu179Arg
|
|
|
ENST00000626542.2:c.536T>G
|
ENSP00000485876.1:p.Leu179Arg
|
|
|
NM_000043.4:c.536T>G , LRG_134t1:c.536T>G
|
NP_000034.1:p.Leu179Arg
|
|
|
NM_152871.2:c.505+183T>G
|
NP_690610.1:n.505+183T>G
|
|
|
NM_152872.2:c.536T>G
|
NP_690611.1:p.Leu179Arg
|
|
|
NR_028033.2:n.742+183T>G
|
|
|
|
NR_028034.2:n.604+183T>G
|
|
|
|
NR_028035.2:n.635T>G
|
|
|
|
NR_028036.2:n.773T>G
|
|
|
|
XM_006717819.2:c.617T>G
|
XP_006717882.1:p.Leu206Arg
|
|
|
XM_011539764.1:c.698T>G
|
XP_011538066.1:p.Leu233Arg
|
|
|
XM_011539765.1:c.667+183T>G
|
XP_011538067.1:n.667+183T>G
|
|
|
XM_011539766.1:c.617T>G
|
XP_011538068.1:p.Leu206Arg
|
|
|
XM_011539767.1:c.581T>G
|
XP_011538069.1:p.Leu194Arg
|
|
|
XR_945732.1:n.604T>G
|
|
|
|
XR_945733.1:n.573+183T>G
|
|
|
|
NM_000043.5:c.536T>G
|
NP_000034.1:p.Leu179Arg
|
|
|
NM_001320619.1:c.536T>G
|
NP_001307548.1:p.Leu179Arg
|
|
|
NM_152871.3:c.505+183T>G
|
NP_690610.1:n.505+183T>G
|
|
|
NM_152872.3:c.536T>G
|
NP_690611.1:p.Leu179Arg
|
|
|
NR_028033.3:n.714+183T>G
|
|
|
|
NR_028034.3:n.576+183T>G
|
|
|
|
NR_028035.3:n.607T>G
|
|
|
|
NR_028036.3:n.745T>G
|
|
|
|
NR_135313.1:n.745T>G
|
|
|
|
NR_135314.1:n.845T>G
|
|
|
|
NR_135315.1:n.598T>G
|
|
|
|
XM_006717819.3:c.617T>G
|
XP_006717882.1:p.Leu206Arg
|
|
|
XM_011539764.2:c.698T>G
|
XP_011538066.1:p.Leu233Arg
|
|
|
XM_011539765.2:c.667+183T>G
|
XP_011538067.1:n.667+183T>G
|
|
|
XM_011539766.2:c.617T>G
|
XP_011538068.1:p.Leu206Arg
|
|
|
XM_011539767.3:c.581T>G
|
XP_011538069.1:p.Leu194Arg
|
|
|
XR_945732.3:n.604T>G
|
|
|
|
XR_945733.2:n.573+183T>G
|
|
|
|
NM_000043.6:c.536T>G
MANE Select
|
NP_000034.1:p.Leu179Arg
|
|
|
NM_001320619.2:c.536T>G
|
NP_001307548.1:p.Leu179Arg
|
|
|
NM_152871.4:c.505+183T>G
|
NP_690610.1:n.505+183T>G
|
|
|
NM_152872.4:c.536T>G
|
NP_690611.1:p.Leu179Arg
|
|
|
NR_028033.4:n.475+183T>G
|
|
|
|
NR_028034.4:n.337+183T>G
|
|
|
|
NR_028035.4:n.368T>G
|
|
|
|
NR_028036.4:n.506T>G
|
|
|
|
NR_135313.2:n.506T>G
|
|
|
|
NR_135314.2:n.702T>G
|
|
|
|
NR_135315.2:n.455T>G
|
|
|
