ENST00000313771.10:n.1313T>C
|
|
|
ENST00000355740.8:c.*327T>C
|
ENSP00000347979.3:n.*327T>C
|
|
ENST00000357339.7:c.941T>C
|
ENSP00000349896.2:p.Val314Ala
|
|
ENST00000371857.8:n.2549T>C
|
|
|
ENST00000460510.6:c.287T>C
|
ENSP00000512812.1:p.Val96Ala
|
|
ENST00000466081.6:n.2653T>C
|
|
|
ENST00000477270.6:c.1049T>C
|
ENSP00000512813.1:p.Val350Ala
|
|
ENST00000479522.6:c.*433T>C
|
ENSP00000424113.1:n.*433T>C
|
|
ENST00000484444.6:c.*445T>C
|
ENSP00000420975.1:n.*445T>C
|
|
ENST00000488877.6:c.895T>C
|
ENSP00000425159.1:n.895T>C
|
|
ENST00000492756.7:c.*433T>C
|
ENSP00000422453.1:n.*433T>C
|
|
ENST00000494799.6:c.287T>C
|
ENSP00000512834.1:p.Val96Ala
|
|
ENST00000562983.3:c.287T>C
|
ENSP00000512845.1:p.Val96Ala
|
|
ENST00000612663.6:c.*406T>C
|
ENSP00000477997.3:n.*406T>C
|
|
ENST00000640140.2:n.1149T>C
|
|
|
ENST00000640250.2:n.503T>C
|
|
|
ENST00000640681.2:n.1108T>C
|
|
|
ENST00000696723.1:n.4637T>C
|
|
|
ENST00000696741.1:n.2642T>C
|
|
|
ENST00000696742.1:n.2369T>C
|
|
|
ENST00000696743.1:n.3772T>C
|
|
|
ENST00000696744.1:n.1043T>C
|
|
|
ENST00000696767.1:n.1338T>C
|
|
|
ENST00000696768.1:c.*327T>C
|
ENSP00000512859.1:n.*327T>C
|
|
ENST00000696769.1:n.2693T>C
|
|
|
ENST00000696771.1:c.287T>C
|
ENSP00000512860.1:p.Val96Ala
|
|
ENST00000696772.1:n.2607T>C
|
|
|
ENST00000696773.1:n.2346T>C
|
|
|
ENST00000696774.1:n.6114T>C
|
|
|
ENST00000696776.1:c.1097T>C
|
ENSP00000512861.1:p.Val366Ala
|
|
ENST00000696777.1:n.2412T>C
|
|
|
ENST00000696778.1:n.1440T>C
|
|
|
ENST00000696779.1:c.611T>C
|
ENSP00000512862.1:p.Val204Ala
|
|
ENST00000696780.1:c.1034T>C
|
ENSP00000512863.1:p.Val345Ala
|
|
ENST00000696781.1:c.749T>C
|
ENSP00000512864.1:p.Val250Ala
|
|
ENST00000696782.1:c.*406T>C
|
ENSP00000512865.1:n.*406T>C
|
|
ENST00000696783.1:n.2872T>C
|
|
|
ENST00000696992.1:n.2121T>C
|
|
|
ENST00000696995.1:n.4533T>C
|
|
|
ENST00000696996.1:n.2446T>C
|
|
|
ENST00000696997.1:c.*634T>C
|
ENSP00000513028.1:n.*634T>C
|
|
ENST00000696998.1:n.2258T>C
|
|
|
ENST00000696999.1:c.287T>C
|
ENSP00000513029.1:p.Val96Ala
|
|
ENST00000697036.1:c.*420T>C
|
ENSP00000513060.1:n.*420T>C
|
|
ENST00000697037.1:n.1039T>C
|
|
|
ENST00000697093.1:n.3240T>C
|
|
|
ENST00000697094.1:n.3587T>C
|
|
|
ENST00000697095.1:c.*2205T>C
|
ENSP00000513104.1:n.*2205T>C
|
|
ENST00000697096.1:n.2137T>C
|
|
|
ENST00000697097.1:c.287T>C
|
ENSP00000513105.1:p.Val96Ala
|
|
ENST00000562983.2:n.1190T>C
|
|
|
ENST00000690268.1:c.1085T>C
|
ENSP00000509810.1:p.Val362Ala
|
|
ENST00000355740.7:c.*330T>C
|
ENSP00000347979.3:n.*330T>C
|
|
ENST00000612663.5:c.*406T>C
|
ENSP00000477997.3:n.*406T>C
|
|
ENST00000640140.1:n.1176T>C
|
|
|
ENST00000640250.1:n.503T>C
|
|
|
ENST00000640681.1:n.1125T>C
|
|
|
ENST00000652046.1:c.1004T>C
MANE Select
|
ENSP00000498466.1:p.Val335Ala
|
|
ENST00000352159.8:c.*321T>C
|
ENSP00000345601.4:n.*321T>C
|
|
ENST00000355279.2:c.979T>C
|
ENSP00000347426.2:n.979T>C
|
|
ENST00000355740.6:c.1004T>C
|
ENSP00000347979.2:p.Val335Ala
|
|
ENST00000357339.6:c.941T>C
|
ENSP00000349896.2:p.Val314Ala
|
|
ENST00000479522.5:c.*433T>C
|
ENSP00000424113.1:n.*433T>C
|
|
ENST00000484444.5:c.*445T>C
|
ENSP00000420975.1:n.*445T>C
|
|
ENST00000488877.5:c.*445T>C
|
ENSP00000425159.1:n.*445T>C
|
|
ENST00000492756.5:c.832T>C
|
ENSP00000422453.1:n.832T>C
|
|
ENST00000494410.5:c.*362T>C
|
ENSP00000423755.1:n.*362T>C
|
|
ENST00000612663.4:c.*351T>C
|
ENSP00000477997.2:n.*351T>C
|
|
NM_000043.4:c.1004T>C , LRG_134t1:c.1004T>C
|
NP_000034.1:p.Val335Ala
|
|
NM_152871.2:c.941T>C
|
NP_690610.1:p.Val314Ala
|
|
NM_152872.2:c.*316T>C
|
NP_690611.1:n.*316T>C
|
|
NR_028033.2:n.1178T>C
|
|
|
NR_028034.2:n.1040T>C
|
|
|
NR_028035.2:n.1103T>C
|
|
|
NR_028036.2:n.1241T>C
|
|
|
XM_006717819.2:c.1085T>C
|
XP_006717882.1:p.Val362Ala
|
|
XM_011539764.1:c.1166T>C
|
XP_011538066.1:p.Val389Ala
|
|
XM_011539765.1:c.1103T>C
|
XP_011538067.1:p.Val368Ala
|
|
XM_011539766.1:c.1085T>C
|
XP_011538068.1:p.Val362Ala
|
|
XM_011539767.1:c.1049T>C
|
XP_011538069.1:p.Val350Ala
|
|
XR_945733.1:n.1009T>C
|
|
|
NM_000043.5:c.1004T>C
|
NP_000034.1:p.Val335Ala
|
|
NM_001320619.1:c.*327T>C
|
NP_001307548.1:n.*327T>C
|
|
NM_152871.3:c.941T>C
|
NP_690610.1:p.Val314Ala
|
|
NM_152872.3:c.*316T>C
|
NP_690611.1:n.*316T>C
|
|
NR_028033.3:n.1150T>C
|
|
|
NR_028034.3:n.1012T>C
|
|
|
NR_028035.3:n.1075T>C
|
|
|
NR_028036.3:n.1213T>C
|
|
|
NR_135313.1:n.1130T>C
|
|
|
NR_135314.1:n.1313T>C
|
|
|
NR_135315.1:n.1066T>C
|
|
|
XM_006717819.3:c.1085T>C
|
XP_006717882.1:p.Val362Ala
|
|
XM_011539764.2:c.1166T>C
|
XP_011538066.1:p.Val389Ala
|
|
XM_011539765.2:c.1103T>C
|
XP_011538067.1:p.Val368Ala
|
|
XM_011539766.2:c.1085T>C
|
XP_011538068.1:p.Val362Ala
|
|
XM_011539767.3:c.1049T>C
|
XP_011538069.1:p.Val350Ala
|
|
XR_945732.3:n.1072T>C
|
|
|
XR_945733.2:n.1009T>C
|
|
|
NM_000043.6:c.1004T>C
MANE Select
|
NP_000034.1:p.Val335Ala
|
|
NM_001320619.2:c.*327T>C
|
NP_001307548.1:n.*327T>C
|
|
NM_152871.4:c.941T>C
|
NP_690610.1:p.Val314Ala
|
|
NM_152872.4:c.*316T>C
|
NP_690611.1:n.*316T>C
|
|
NR_028033.4:n.911T>C
|
|
|
NR_028034.4:n.773T>C
|
|
|
NR_028035.4:n.836T>C
|
|
|
NR_028036.4:n.974T>C
|
|
|
NR_135313.2:n.891T>C
|
|
|
NR_135314.2:n.1170T>C
|
|
|
NR_135315.2:n.923T>C
|
|
|