|
ENST00000313771.10:n.953T>G
|
|
|
|
ENST00000355740.8:c.568+1259T>G
|
ENSP00000347979.3:n.568+1259T>G
|
|
|
ENST00000357339.7:c.581T>G
|
ENSP00000349896.2:p.Leu194Ter
|
|
|
ENST00000371857.8:n.2189T>G
|
|
|
|
ENST00000460510.6:c.-74T>G
|
ENSP00000512812.1:n.-74T>G
|
|
|
ENST00000466081.6:n.2039T>G
|
|
|
|
ENST00000477270.6:c.689T>G
|
ENSP00000512813.1:p.Leu230Ter
|
|
|
ENST00000479522.6:c.*73T>G
|
ENSP00000424113.1:n.*73T>G
|
|
|
ENST00000484444.6:c.*85T>G
|
ENSP00000420975.1:n.*85T>G
|
|
|
ENST00000488877.6:c.535T>G
|
ENSP00000425159.1:n.535T>G
|
|
|
ENST00000492756.7:c.*73T>G
|
ENSP00000422453.1:n.*73T>G
|
|
|
ENST00000494799.6:c.-74T>G
|
ENSP00000512834.1:n.-74T>G
|
|
|
ENST00000562983.3:c.-74T>G
|
ENSP00000512845.1:n.-74T>G
|
|
|
ENST00000612663.6:c.644T>G
|
ENSP00000477997.3:p.Leu215Ter
|
|
|
ENST00000640140.2:n.789T>G
|
|
|
|
ENST00000640681.2:n.748T>G
|
|
|
|
ENST00000696723.1:n.4277T>G
|
|
|
|
ENST00000696741.1:n.2282T>G
|
|
|
|
ENST00000696742.1:n.2009T>G
|
|
|
|
ENST00000696743.1:n.2151T>G
|
|
|
|
ENST00000696744.1:n.683T>G
|
|
|
|
ENST00000696767.1:n.978T>G
|
|
|
|
ENST00000696768.1:c.506-1269T>G
|
ENSP00000512859.1:n.506-1269T>G
|
|
|
ENST00000696769.1:n.2333T>G
|
|
|
|
ENST00000696770.1:n.4754T>G
|
|
|
|
ENST00000696771.1:c.-74T>G
|
ENSP00000512860.1:n.-74T>G
|
|
|
ENST00000696772.1:n.1993T>G
|
|
|
|
ENST00000696773.1:n.1986T>G
|
|
|
|
ENST00000696774.1:n.3742T>G
|
|
|
|
ENST00000696776.1:c.737T>G
|
ENSP00000512861.1:p.Leu246Ter
|
|
|
ENST00000696777.1:n.2052T>G
|
|
|
|
ENST00000696778.1:n.826T>G
|
|
|
|
ENST00000696779.1:c.259-1269T>G
|
ENSP00000512862.1:n.259-1269T>G
|
|
|
ENST00000696780.1:c.674T>G
|
ENSP00000512863.1:p.Leu225Ter
|
|
|
ENST00000696781.1:c.397-1269T>G
|
ENSP00000512864.1:n.397-1269T>G
|
|
|
ENST00000696782.1:c.581T>G
|
ENSP00000512865.1:p.Leu194Ter
|
|
|
ENST00000696783.1:n.2512T>G
|
|
|
|
ENST00000696992.1:n.1761T>G
|
|
|
|
ENST00000696995.1:n.2161T>G
|
|
|
|
ENST00000696996.1:n.825T>G
|
|
|
|
ENST00000696997.1:c.*274T>G
|
ENSP00000513028.1:n.*274T>G
|
|
|
ENST00000696998.1:n.1898T>G
|
|
|
|
ENST00000696999.1:c.-74T>G
|
ENSP00000513029.1:n.-74T>G
|
|
|
ENST00000697035.1:c.644T>G
|
ENSP00000513059.1:p.Leu215Ter
|
|
|
ENST00000697036.1:c.*85T>G
|
ENSP00000513060.1:n.*85T>G
|
|
|
ENST00000697037.1:n.679T>G
|
|
|
|
ENST00000697093.1:n.868T>G
|
|
|
|
ENST00000697094.1:n.1966T>G
|
|
|
|
ENST00000697095.1:c.*1845T>G
|
ENSP00000513104.1:n.*1845T>G
|
|
|
ENST00000697096.1:n.1777T>G
|
|
|
|
ENST00000697097.1:c.-74T>G
|
ENSP00000513105.1:n.-74T>G
|
|
|
ENST00000562983.2:n.830T>G
|
|
|
|
ENST00000690268.1:c.725T>G
|
ENSP00000509810.1:p.Leu242Ter
|
|
|
ENST00000355740.7:c.568+1259T>G
|
ENSP00000347979.3:n.568+1259T>G
|
|
|
ENST00000612663.5:c.644T>G
|
ENSP00000477997.3:p.Leu215Ter
|
|
|
ENST00000640140.1:n.816T>G
|
|
|
|
ENST00000640681.1:n.765T>G
|
|
|
|
ENST00000652046.1:c.644T>G
MANE Select
|
ENSP00000498466.1:p.Leu215Ter
|
|
|
ENST00000313771.9:n.953T>G
|
|
|
|
ENST00000352159.8:c.644T>G
|
ENSP00000345601.4:p.Leu215Ter
|
|
|
ENST00000355279.2:c.644T>G
|
ENSP00000347426.2:p.Leu215Ter
|
|
|
ENST00000355740.6:c.644T>G
|
ENSP00000347979.2:p.Leu215Ter
|
|
|
ENST00000357339.6:c.581T>G
|
ENSP00000349896.2:p.Leu194Ter
|
|
|
ENST00000479522.5:c.*73T>G
|
ENSP00000424113.1:n.*73T>G
|
|
|
ENST00000484444.5:c.*85T>G
|
ENSP00000420975.1:n.*85T>G
|
|
|
ENST00000487314.1:n.793T>G
|
|
|
|
ENST00000488877.5:c.*85T>G
|
ENSP00000425159.1:n.*85T>G
|
|
|
ENST00000492756.5:c.472T>G
|
ENSP00000422453.1:n.472T>G
|
|
|
ENST00000494410.5:c.*9+1259T>G
|
ENSP00000423755.1:n.*9+1259T>G
|
|
|
ENST00000494799.5:n.551T>G
|
|
|
|
ENST00000612663.4:c.642T>G
|
ENSP00000477997.2:p.Phe214Leu
|
|
|
ENST00000615406.4:c.644T>G
|
ENSP00000484575.1:p.Leu215Ter
|
|
|
ENST00000626542.2:c.644T>G
|
ENSP00000485876.1:p.Leu215Ter
|
|
|
NM_000043.4:c.644T>G , LRG_134t1:c.644T>G
|
NP_000034.1:p.Leu215Ter
|
|
|
NM_152871.2:c.581T>G
|
NP_690610.1:p.Leu194Ter
|
|
|
NM_152872.2:c.644T>G
|
NP_690611.1:p.Leu215Ter
|
|
|
NR_028033.2:n.818T>G
|
|
|
|
NR_028034.2:n.680T>G
|
|
|
|
NR_028035.2:n.743T>G
|
|
|
|
NR_028036.2:n.881T>G
|
|
|
|
XM_006717819.2:c.725T>G
|
XP_006717882.1:p.Leu242Ter
|
|
|
XM_011539764.1:c.806T>G
|
XP_011538066.1:p.Leu269Ter
|
|
|
XM_011539765.1:c.743T>G
|
XP_011538067.1:p.Leu248Ter
|
|
|
XM_011539766.1:c.725T>G
|
XP_011538068.1:p.Leu242Ter
|
|
|
XM_011539767.1:c.689T>G
|
XP_011538069.1:p.Leu230Ter
|
|
|
XR_945732.1:n.712T>G
|
|
|
|
XR_945733.1:n.649T>G
|
|
|
|
NM_000043.5:c.644T>G
|
NP_000034.1:p.Leu215Ter
|
|
|
NM_001320619.1:c.568+1259T>G
|
NP_001307548.1:n.568+1259T>G
|
|
|
NM_152871.3:c.581T>G
|
NP_690610.1:p.Leu194Ter
|
|
|
NM_152872.3:c.644T>G
|
NP_690611.1:p.Leu215Ter
|
|
|
NR_028033.3:n.790T>G
|
|
|
|
NR_028034.3:n.652T>G
|
|
|
|
NR_028035.3:n.715T>G
|
|
|
|
NR_028036.3:n.853T>G
|
|
|
|
NR_135313.1:n.777+1259T>G
|
|
|
|
NR_135314.1:n.953T>G
|
|
|
|
NR_135315.1:n.706T>G
|
|
|
|
XM_006717819.3:c.725T>G
|
XP_006717882.1:p.Leu242Ter
|
|
|
XM_011539764.2:c.806T>G
|
XP_011538066.1:p.Leu269Ter
|
|
|
XM_011539765.2:c.743T>G
|
XP_011538067.1:p.Leu248Ter
|
|
|
XM_011539766.2:c.725T>G
|
XP_011538068.1:p.Leu242Ter
|
|
|
XM_011539767.3:c.689T>G
|
XP_011538069.1:p.Leu230Ter
|
|
|
XR_945732.3:n.712T>G
|
|
|
|
XR_945733.2:n.649T>G
|
|
|
|
NM_000043.6:c.644T>G
MANE Select
|
NP_000034.1:p.Leu215Ter
|
|
|
NM_001320619.2:c.568+1259T>G
|
NP_001307548.1:n.568+1259T>G
|
|
|
NM_152871.4:c.581T>G
|
NP_690610.1:p.Leu194Ter
|
|
|
NM_152872.4:c.644T>G
|
NP_690611.1:p.Leu215Ter
|
|
|
NR_028033.4:n.551T>G
|
|
|
|
NR_028034.4:n.413T>G
|
|
|
|
NR_028035.4:n.476T>G
|
|
|
|
NR_028036.4:n.614T>G
|
|
|
|
NR_135313.2:n.538+1259T>G
|
|
|
|
NR_135314.2:n.810T>G
|
|
|
|
NR_135315.2:n.563T>G
|
|
|
