|
ENST00000313771.10:n.1039C>G
|
|
|
|
ENST00000355740.8:c.*53C>G
|
ENSP00000347979.3:n.*53C>G
|
|
|
ENST00000357339.7:c.667C>G
|
ENSP00000349896.2:p.Gln223Glu
|
|
|
ENST00000371857.8:n.2275C>G
|
|
|
|
ENST00000460510.6:c.13C>G
|
ENSP00000512812.1:p.Gln5Glu
|
|
|
ENST00000466081.6:n.2379C>G
|
|
|
|
ENST00000477270.6:c.775C>G
|
ENSP00000512813.1:p.Gln259Glu
|
|
|
ENST00000479522.6:c.*159C>G
|
ENSP00000424113.1:n.*159C>G
|
|
|
ENST00000484444.6:c.*171C>G
|
ENSP00000420975.1:n.*171C>G
|
|
|
ENST00000488877.6:c.621C>G
|
ENSP00000425159.1:n.621C>G
|
|
|
ENST00000492756.7:c.*159C>G
|
ENSP00000422453.1:n.*159C>G
|
|
|
ENST00000494799.6:c.13C>G
|
ENSP00000512834.1:p.Gln5Glu
|
|
|
ENST00000562983.3:c.13C>G
|
ENSP00000512845.1:p.Gln5Glu
|
|
|
ENST00000612663.6:c.*132C>G
|
ENSP00000477997.3:n.*132C>G
|
|
|
ENST00000640140.2:n.875C>G
|
|
|
|
ENST00000640250.2:n.229C>G
|
|
|
|
ENST00000640681.2:n.834C>G
|
|
|
|
ENST00000696723.1:n.4363C>G
|
|
|
|
ENST00000696741.1:n.2368C>G
|
|
|
|
ENST00000696742.1:n.2095C>G
|
|
|
|
ENST00000696743.1:n.3498C>G
|
|
|
|
ENST00000696744.1:n.769C>G
|
|
|
|
ENST00000696767.1:n.1064C>G
|
|
|
|
ENST00000696768.1:c.*53C>G
|
ENSP00000512859.1:n.*53C>G
|
|
|
ENST00000696769.1:n.2419C>G
|
|
|
|
ENST00000696771.1:c.13C>G
|
ENSP00000512860.1:p.Gln5Glu
|
|
|
ENST00000696772.1:n.2333C>G
|
|
|
|
ENST00000696773.1:n.2072C>G
|
|
|
|
ENST00000696774.1:n.5840C>G
|
|
|
|
ENST00000696776.1:c.823C>G
|
ENSP00000512861.1:p.Gln275Glu
|
|
|
ENST00000696777.1:n.2138C>G
|
|
|
|
ENST00000696778.1:n.1166C>G
|
|
|
|
ENST00000696779.1:c.337C>G
|
ENSP00000512862.1:p.Gln113Glu
|
|
|
ENST00000696780.1:c.760C>G
|
ENSP00000512863.1:p.Gln254Glu
|
|
|
ENST00000696781.1:c.475C>G
|
ENSP00000512864.1:p.Gln159Glu
|
|
|
ENST00000696782.1:c.*132C>G
|
ENSP00000512865.1:n.*132C>G
|
|
|
ENST00000696783.1:n.2598C>G
|
|
|
|
ENST00000696992.1:n.1847C>G
|
|
|
|
ENST00000696995.1:n.4259C>G
|
|
|
|
ENST00000696996.1:n.2172C>G
|
|
|
|
ENST00000696997.1:c.*360C>G
|
ENSP00000513028.1:n.*360C>G
|
|
|
ENST00000696998.1:n.1984C>G
|
|
|
|
ENST00000696999.1:c.13C>G
|
ENSP00000513029.1:p.Gln5Glu
|
|
|
ENST00000697035.1:c.*63C>G
|
ENSP00000513059.1:n.*63C>G
|
|
|
ENST00000697036.1:c.*146C>G
|
ENSP00000513060.1:n.*146C>G
|
|
|
ENST00000697037.1:n.765C>G
|
|
|
|
ENST00000697093.1:n.2966C>G
|
|
|
|
ENST00000697094.1:n.3313C>G
|
|
|
|
ENST00000697095.1:c.*1931C>G
|
ENSP00000513104.1:n.*1931C>G
|
|
|
ENST00000697096.1:n.1863C>G
|
|
|
|
ENST00000697097.1:c.13C>G
|
ENSP00000513105.1:p.Gln5Glu
|
|
|
ENST00000562983.2:n.916C>G
|
|
|
|
ENST00000690268.1:c.811C>G
|
ENSP00000509810.1:p.Gln271Glu
|
|
|
ENST00000355740.7:c.*56C>G
|
ENSP00000347979.3:n.*56C>G
|
|
|
ENST00000612663.5:c.*132C>G
|
ENSP00000477997.3:n.*132C>G
|
|
|
ENST00000640140.1:n.902C>G
|
|
|
|
ENST00000640250.1:n.229C>G
|
|
|
|
ENST00000640681.1:n.851C>G
|
|
|
|
ENST00000652046.1:c.730C>G
MANE Select
|
ENSP00000498466.1:p.Gln244Glu
|
|
|
ENST00000313771.9:n.1039C>G
|
|
|
|
ENST00000352159.8:c.*47C>G
|
ENSP00000345601.4:n.*47C>G
|
|
|
ENST00000355279.2:c.705C>G
|
ENSP00000347426.2:n.705C>G
|
|
|
ENST00000355740.6:c.730C>G
|
ENSP00000347979.2:p.Gln244Glu
|
|
|
ENST00000357339.6:c.667C>G
|
ENSP00000349896.2:p.Gln223Glu
|
|
|
ENST00000479522.5:c.*159C>G
|
ENSP00000424113.1:n.*159C>G
|
|
|
ENST00000484444.5:c.*171C>G
|
ENSP00000420975.1:n.*171C>G
|
|
|
ENST00000488877.5:c.*171C>G
|
ENSP00000425159.1:n.*171C>G
|
|
|
ENST00000492756.5:c.558C>G
|
ENSP00000422453.1:n.558C>G
|
|
|
ENST00000494410.5:c.*88C>G
|
ENSP00000423755.1:n.*88C>G
|
|
|
ENST00000494799.5:n.637C>G
|
|
|
|
ENST00000612663.4:c.*77C>G
|
ENSP00000477997.2:n.*77C>G
|
|
|
ENST00000615406.4:c.730C>G
|
ENSP00000484575.1:p.Gln244Glu
|
|
|
ENST00000626542.2:c.728C>G
|
ENSP00000485876.1:p.Ser243Ter
|
|
|
NM_000043.4:c.730C>G , LRG_134t1:c.730C>G
|
NP_000034.1:p.Gln244Glu
|
|
|
NM_152871.2:c.667C>G
|
NP_690610.1:p.Gln223Glu
|
|
|
NM_152872.2:c.*42C>G
|
NP_690611.1:n.*42C>G
|
|
|
NR_028033.2:n.904C>G
|
|
|
|
NR_028034.2:n.766C>G
|
|
|
|
NR_028035.2:n.829C>G
|
|
|
|
NR_028036.2:n.967C>G
|
|
|
|
XM_006717819.2:c.811C>G
|
XP_006717882.1:p.Gln271Glu
|
|
|
XM_011539764.1:c.892C>G
|
XP_011538066.1:p.Gln298Glu
|
|
|
XM_011539765.1:c.829C>G
|
XP_011538067.1:p.Gln277Glu
|
|
|
XM_011539766.1:c.811C>G
|
XP_011538068.1:p.Gln271Glu
|
|
|
XM_011539767.1:c.775C>G
|
XP_011538069.1:p.Gln259Glu
|
|
|
XR_945732.1:n.798C>G
|
|
|
|
XR_945733.1:n.735C>G
|
|
|
|
NM_000043.5:c.730C>G
|
NP_000034.1:p.Gln244Glu
|
|
|
NM_001320619.1:c.*53C>G
|
NP_001307548.1:n.*53C>G
|
|
|
NM_152871.3:c.667C>G
|
NP_690610.1:p.Gln223Glu
|
|
|
NM_152872.3:c.*42C>G
|
NP_690611.1:n.*42C>G
|
|
|
NR_028033.3:n.876C>G
|
|
|
|
NR_028034.3:n.738C>G
|
|
|
|
NR_028035.3:n.801C>G
|
|
|
|
NR_028036.3:n.939C>G
|
|
|
|
NR_135313.1:n.856C>G
|
|
|
|
NR_135314.1:n.1039C>G
|
|
|
|
NR_135315.1:n.792C>G
|
|
|
|
XM_006717819.3:c.811C>G
|
XP_006717882.1:p.Gln271Glu
|
|
|
XM_011539764.2:c.892C>G
|
XP_011538066.1:p.Gln298Glu
|
|
|
XM_011539765.2:c.829C>G
|
XP_011538067.1:p.Gln277Glu
|
|
|
XM_011539766.2:c.811C>G
|
XP_011538068.1:p.Gln271Glu
|
|
|
XM_011539767.3:c.775C>G
|
XP_011538069.1:p.Gln259Glu
|
|
|
XR_945732.3:n.798C>G
|
|
|
|
XR_945733.2:n.735C>G
|
|
|
|
NM_000043.6:c.730C>G
MANE Select
|
NP_000034.1:p.Gln244Glu
|
|
|
NM_001320619.2:c.*53C>G
|
NP_001307548.1:n.*53C>G
|
|
|
NM_152871.4:c.667C>G
|
NP_690610.1:p.Gln223Glu
|
|
|
NM_152872.4:c.*42C>G
|
NP_690611.1:n.*42C>G
|
|
|
NR_028033.4:n.637C>G
|
|
|
|
NR_028034.4:n.499C>G
|
|
|
|
NR_028035.4:n.562C>G
|
|
|
|
NR_028036.4:n.700C>G
|
|
|
|
NR_135313.2:n.617C>G
|
|
|
|
NR_135314.2:n.896C>G
|
|
|
|
NR_135315.2:n.649C>G
|
|
|
