|
ENST00000418862.2:c.889T>A
|
ENSP00000391981.2:p.Leu297Met
|
|
|
ENST00000508658.6:c.2761T>A
|
ENSP00000422814.2:p.Leu921Met
|
|
|
ENST00000509338.6:c.1882T>A
|
ENSP00000424302.2:p.Leu628Met
|
|
|
ENST00000514801.2:n.1978T>A
|
|
|
|
ENST00000515216.6:c.2746-18T>A
|
ENSP00000425630.2:n.2746-18T>A
|
|
|
ENST00000681965.1:c.3899T>A
|
ENSP00000507317.1:n.3899T>A
|
|
|
ENST00000681981.1:c.2677T>A
|
ENSP00000507672.1:p.Leu893Met
|
|
|
ENST00000682022.1:c.*2653T>A
|
ENSP00000508118.1:n.*2653T>A
|
|
|
ENST00000682023.1:c.*2384T>A
|
ENSP00000507998.1:n.*2384T>A
|
|
|
ENST00000682034.1:c.*1928T>A
|
ENSP00000506724.1:n.*1928T>A
|
|
|
ENST00000682057.1:c.*2190T>A
|
ENSP00000507883.1:n.*2190T>A
|
|
|
ENST00000682083.1:c.*2671T>A
|
ENSP00000506859.1:n.*2671T>A
|
|
|
ENST00000682106.1:n.5275T>A
|
|
|
|
ENST00000682133.1:c.*324T>A
|
ENSP00000507001.1:n.*324T>A
|
|
|
ENST00000682171.1:c.2602T>A
|
ENSP00000508327.1:p.Leu868Met
|
|
|
ENST00000682174.1:c.*2384T>A
|
ENSP00000507248.1:n.*2384T>A
|
|
|
ENST00000682374.1:c.*1307T>A
|
ENSP00000507425.1:n.*1307T>A
|
|
|
ENST00000682412.1:c.2601T>A
|
ENSP00000507297.1:n.2601T>A
|
|
|
ENST00000682454.1:c.*2124T>A
|
ENSP00000507851.1:n.*2124T>A
|
|
|
ENST00000682455.1:c.*3739T>A
|
ENSP00000507586.1:n.*3739T>A
|
|
|
ENST00000682464.1:c.*324T>A
|
ENSP00000507625.1:n.*324T>A
|
|
|
ENST00000682491.1:c.2473T>A
|
ENSP00000506970.1:p.Leu825Met
|
|
|
ENST00000682497.1:c.2758T>A
|
ENSP00000507869.1:p.Leu920Met
|
|
|
ENST00000682504.1:c.*2667T>A
|
ENSP00000507623.1:n.*2667T>A
|
|
|
ENST00000682514.1:n.8548T>A
|
|
|
|
ENST00000682594.1:n.3377T>A
|
|
|
|
ENST00000682633.1:c.*324T>A
|
ENSP00000507843.1:n.*324T>A
|
|
|
ENST00000682660.1:c.2500T>A
|
ENSP00000507539.1:p.Leu834Met
|
|
|
ENST00000682682.1:c.2596T>A
|
ENSP00000507777.1:p.Leu866Met
|
|
|
ENST00000682688.1:c.*1766T>A
|
ENSP00000507097.1:n.*1766T>A
|
|
|
ENST00000682694.1:c.*2124T>A
|
ENSP00000507387.1:n.*2124T>A
|
|
|
ENST00000682709.1:n.8680T>A
|
|
|
|
ENST00000682738.1:c.2569T>A
|
ENSP00000507742.1:p.Leu857Met
|
|
|
ENST00000682776.1:c.*1512T>A
|
ENSP00000507490.1:n.*1512T>A
|
|
|
ENST00000682854.1:c.*2749T>A
|
ENSP00000507257.1:n.*2749T>A
|
|
|
ENST00000682878.1:c.*2449T>A
|
ENSP00000507360.1:n.*2449T>A
|
|
|
ENST00000682926.1:n.2168T>A
|
|
|
|
ENST00000682939.1:c.2473T>A
|
ENSP00000506902.1:p.Leu825Met
|
|
|
ENST00000682991.1:c.2542T>A
|
ENSP00000508193.1:p.Leu848Met
|
|
|
ENST00000682995.1:c.*1485T>A
|
ENSP00000506807.1:n.*1485T>A
|
|
|
ENST00000683073.1:c.*879T>A
|
ENSP00000507270.1:n.*879T>A
|
|
|
ENST00000683074.1:c.*2671T>A
|
ENSP00000507008.1:n.*2671T>A
|
|
|
ENST00000683085.1:c.*836T>A
|
ENSP00000507993.1:n.*836T>A
|
|
|
ENST00000683097.1:c.*1131T>A
|
ENSP00000507556.1:n.*1131T>A
|
|
|
ENST00000683126.1:c.*2281T>A
|
ENSP00000507507.1:n.*2281T>A
|
|
|
ENST00000683195.1:c.*2124T>A
|
ENSP00000508190.1:n.*2124T>A
|
|
|
ENST00000683196.1:c.*2124T>A
|
ENSP00000508297.1:n.*2124T>A
|
|
|
ENST00000683364.1:c.*2631T>A
|
ENSP00000507791.1:n.*2631T>A
|
|
|
ENST00000683436.1:c.*1792T>A
|
ENSP00000506874.1:n.*1792T>A
|
|
|
ENST00000683458.1:c.*1512T>A
|
ENSP00000508204.1:n.*1512T>A
|
|
|
ENST00000683473.1:n.3872T>A
|
|
|
|
ENST00000683479.1:c.2761T>A
|
ENSP00000507368.1:p.Leu921Met
|
|
|
ENST00000683481.1:c.*1643T>A
|
ENSP00000507015.1:n.*1643T>A
|
|
|
ENST00000683541.1:c.2758T>A
|
ENSP00000507116.1:p.Leu920Met
|
|
|
ENST00000683542.1:c.*2285T>A
|
ENSP00000506893.1:n.*2285T>A
|
|
|
ENST00000683577.1:c.*324T>A
|
ENSP00000507516.1:n.*324T>A
|
|
|
ENST00000683583.1:c.*5175T>A
|
ENSP00000507244.1:n.*5175T>A
|
|
|
ENST00000683643.1:c.2629T>A
|
ENSP00000507444.1:p.Leu877Met
|
|
|
ENST00000683698.1:c.*2277T>A
|
ENSP00000507000.1:n.*2277T>A
|
|
|
ENST00000683726.1:c.*2281T>A
|
ENSP00000507744.1:n.*2281T>A
|
|
|
ENST00000683754.1:c.2680T>A
|
ENSP00000507707.1:p.Leu894Met
|
|
|
ENST00000683763.1:n.1459T>A
|
|
|
|
ENST00000683785.1:c.2626T>A
|
ENSP00000507188.1:p.Leu876Met
|
|
|
ENST00000683803.1:c.*1512T>A
|
ENSP00000508216.1:n.*1512T>A
|
|
|
ENST00000683857.1:c.*2190T>A
|
ENSP00000508015.1:n.*2190T>A
|
|
|
ENST00000683873.1:c.*2336T>A
|
ENSP00000506829.1:n.*2336T>A
|
|
|
ENST00000683878.1:c.*2042T>A
|
ENSP00000507449.1:n.*2042T>A
|
|
|
ENST00000683880.1:c.*2285T>A
|
ENSP00000508357.1:n.*2285T>A
|
|
|
ENST00000683898.1:c.2596T>A
|
ENSP00000506897.1:p.Leu866Met
|
|
|
ENST00000683909.1:n.4791T>A
|
|
|
|
ENST00000684017.1:n.8273T>A
|
|
|
|
ENST00000684108.1:n.8680T>A
|
|
|
|
ENST00000684118.1:c.2743-18T>A
|
ENSP00000507950.1:n.2743-18T>A
|
|
|
ENST00000684150.1:c.2602T>A
|
ENSP00000507401.1:p.Leu868Met
|
|
|
ENST00000684220.1:c.*2631T>A
|
ENSP00000507382.1:n.*2631T>A
|
|
|
ENST00000684239.1:c.*2386T>A
|
ENSP00000507479.1:n.*2386T>A
|
|
|
ENST00000684273.1:c.*2254T>A
|
ENSP00000508063.1:n.*2254T>A
|
|
|
ENST00000684281.1:c.2410T>A
|
ENSP00000507932.1:p.Leu804Met
|
|
|
ENST00000684299.1:c.*324T>A
|
ENSP00000507637.1:n.*324T>A
|
|
|
ENST00000684319.1:c.*324T>A
|
ENSP00000508346.1:n.*324T>A
|
|
|
ENST00000684422.1:c.*2434T>A
|
ENSP00000507146.1:n.*2434T>A
|
|
|
ENST00000684451.1:c.*2066T>A
|
ENSP00000507384.1:n.*2066T>A
|
|
|
ENST00000684570.1:c.2824T>A
|
ENSP00000508127.1:p.Leu942Met
|
|
|
ENST00000684581.1:c.*582T>A
|
ENSP00000507294.1:n.*582T>A
|
|
|
ENST00000684647.1:c.2470T>A
|
ENSP00000506873.1:p.Leu824Met
|
|
|
ENST00000684680.1:c.2386T>A
|
ENSP00000507491.1:p.Leu796Met
|
|
|
ENST00000684717.1:c.2878T>A
|
ENSP00000507024.1:p.Leu960Met
|
|
|
ENST00000314673.8:c.2761T>A
MANE Select
|
ENSP00000313121.3:p.Leu921Met
|
|
|
ENST00000314673.7:c.2761T>A
|
ENSP00000313121.3:p.Leu921Met
|
|
|
ENST00000346348.7:c.2602T>A
|
ENSP00000257769.3:p.Leu868Met
|
|
|
ENST00000369627.6:c.2734T>A
|
ENSP00000358641.2:p.Leu912Met
|
|
|
ENST00000474645.6:n.506T>A
|
|
|
|
ENST00000503491.5:n.3250T>A
|
|
|
|
ENST00000505648.5:c.2605T>A
|
ENSP00000427380.1:p.Leu869Met
|
|
|
ENST00000508658.5:c.477T>A
|
|
|
|
ENST00000508980.5:n.3367T>A
|
|
|
|
ENST00000513865.5:c.1918T>A
|
ENSP00000420938.1:p.Leu640Met
|
|
|
NM_001297614.2:c.2734T>A
|
NP_001284543.1:p.Leu912Met
|
|
|
NM_001304479.1:c.2605T>A
|
NP_001291408.1:p.Leu869Met
|
|
|
NM_020468.5:c.2602T>A
|
NP_065201.1:p.Leu868Met
|
|
|
NM_153816.5:c.2761T>A
|
NP_722523.1:p.Leu921Met
|
|
|
XM_005248738.3:c.2758T>A
|
XP_005248795.1:p.Leu920Met
|
|
|
XM_005248740.3:c.2629T>A
|
XP_005248797.1:p.Leu877Met
|
|
|
XM_011535978.1:c.2542T>A
|
XP_011534280.1:p.Leu848Met
|
|
|
XM_011535979.1:c.2473T>A
|
XP_011534281.1:p.Leu825Met
|
|
|
XM_011535980.1:c.1606T>A
|
XP_011534282.1:p.Leu536Met
|
|
|
XR_942523.1:n.2869T>A
|
|
|
|
NM_001350532.1:c.2824T>A
|
NP_001337461.1:p.Leu942Met
|
|
|
NM_001350533.1:c.2758T>A
|
NP_001337462.1:p.Leu920Met
|
|
|
NM_001350534.1:c.2731T>A
|
NP_001337463.1:p.Leu911Met
|
|
|
NM_001350535.1:c.2743-18T>A
|
NP_001337464.1:n.2743-18T>A
|
|
|
NM_001350536.1:c.2629T>A
|
NP_001337465.1:p.Leu877Met
|
|
|
NM_001350537.1:c.2626T>A
|
NP_001337466.1:p.Leu876Met
|
|
|
NM_001350538.1:c.2617T>A
|
NP_001337467.1:p.Leu873Met
|
|
|
NM_001350539.1:c.2602T>A
|
NP_001337468.1:p.Leu868Met
|
|
|
NM_001350540.1:c.2596T>A
|
NP_001337469.1:p.Leu866Met
|
|
|
NM_001350541.1:c.2569T>A
|
NP_001337470.1:p.Leu857Met
|
|
|
NM_001350542.1:c.2473T>A
|
NP_001337471.1:p.Leu825Met
|
|
|
NM_001350543.1:c.2470T>A
|
NP_001337472.1:p.Leu824Met
|
|
|
NM_001350544.1:c.2461T>A
|
NP_001337473.1:p.Leu821Met
|
|
|
NM_001350545.1:c.2317T>A
|
NP_001337474.1:p.Leu773Met
|
|
|
NM_001350546.1:c.2317T>A
|
NP_001337475.1:p.Leu773Met
|
|
|
NM_001350547.1:c.1711T>A
|
NP_001337476.1:p.Leu571Met
|
|
|
NM_001350548.1:c.1606T>A
|
NP_001337477.1:p.Leu536Met
|
|
|
NM_001350549.1:c.1606T>A
|
NP_001337478.1:p.Leu536Met
|
|
|
NM_001350550.1:c.1606T>A
|
NP_001337479.1:p.Leu536Met
|
|
|
NM_001350551.1:c.1606T>A
|
NP_001337480.1:p.Leu536Met
|
|
|
NM_001350552.1:c.1606T>A
|
NP_001337481.1:p.Leu536Met
|
|
|
NM_001350553.1:c.1579T>A
|
NP_001337482.1:p.Leu527Met
|
|
|
NR_146774.1:n.3195T>A
|
|
|
|
NR_146775.1:n.3198T>A
|
|
|
|
NR_146776.1:n.3321T>A
|
|
|
|
NR_146777.1:n.3449T>A
|
|
|
|
NR_146778.1:n.3453T>A
|
|
|
|
NR_146779.1:n.3450T>A
|
|
|
|
XM_017011090.1:c.2602T>A
|
XP_016866579.1:p.Leu868Met
|
|
|
XM_024446498.1:c.2470T>A
|
XP_024302266.1:p.Leu824Met
|
|
|
XM_024446499.1:c.1606T>A
|
XP_024302267.1:p.Leu536Met
|
|
|
NM_153816.6:c.2761T>A
MANE Select
|
NP_722523.1:p.Leu921Met
|
|
|
NM_001297614.3:c.2734T>A
|
NP_001284543.1:p.Leu912Met
|
|
|
NM_001304479.2:c.2605T>A
|
NP_001291408.1:p.Leu869Met
|
|
|
NM_001350532.2:c.2824T>A
|
NP_001337461.1:p.Leu942Met
|
|
|
NM_001350533.2:c.2758T>A
|
NP_001337462.1:p.Leu920Met
|
|
|
NM_001350534.2:c.2731T>A
|
NP_001337463.1:p.Leu911Met
|
|
|
NM_001350535.2:c.2743-18T>A
|
NP_001337464.1:n.2743-18T>A
|
|
|
NM_001350536.2:c.2629T>A
|
NP_001337465.1:p.Leu877Met
|
|
|
NM_001350537.2:c.2626T>A
|
NP_001337466.1:p.Leu876Met
|
|
|
NM_001350538.2:c.2617T>A
|
NP_001337467.1:p.Leu873Met
|
|
|
NM_001350539.2:c.2602T>A
|
NP_001337468.1:p.Leu868Met
|
|
|
NM_001350540.2:c.2596T>A
|
NP_001337469.1:p.Leu866Met
|
|
|
NM_001350541.2:c.2569T>A
|
NP_001337470.1:p.Leu857Met
|
|
|
NM_001350542.2:c.2473T>A
|
NP_001337471.1:p.Leu825Met
|
|
|
NM_001350543.2:c.2470T>A
|
NP_001337472.1:p.Leu824Met
|
|
|
NM_001350544.2:c.2461T>A
|
NP_001337473.1:p.Leu821Met
|
|
|
NM_001350545.2:c.2317T>A
|
NP_001337474.1:p.Leu773Met
|
|
|
NM_001350546.2:c.2317T>A
|
NP_001337475.1:p.Leu773Met
|
|
|
NM_001350547.2:c.1711T>A
|
NP_001337476.1:p.Leu571Met
|
|
|
NM_001350548.2:c.1606T>A
|
NP_001337477.1:p.Leu536Met
|
|
|
NM_001350549.2:c.1606T>A
|
NP_001337478.1:p.Leu536Met
|
|
|
NM_001350550.2:c.1606T>A
|
NP_001337479.1:p.Leu536Met
|
|
|
NM_001350551.2:c.1606T>A
|
NP_001337480.1:p.Leu536Met
|
|
|
NM_001350552.2:c.1606T>A
|
NP_001337481.1:p.Leu536Met
|
|
|
NM_001350553.2:c.1579T>A
|
NP_001337482.1:p.Leu527Met
|
|
|
NM_020468.6:c.2602T>A
|
NP_065201.1:p.Leu868Met
|
|
|
NR_146774.2:n.2897T>A
|
|
|
|
NR_146775.2:n.2900T>A
|
|
|
|
NR_146776.2:n.3023T>A
|
|
|
|
NR_146777.2:n.3151T>A
|
|
|
|
NR_146778.2:n.3155T>A
|
|
|
|
NR_146779.2:n.3152T>A
|
|
|
