|
ENST00000313771.10:n.1111C>G
|
|
|
|
ENST00000355740.8:c.*125C>G
|
ENSP00000347979.3:n.*125C>G
|
|
|
ENST00000357339.7:c.739C>G
|
ENSP00000349896.2:p.Gln247Glu
|
|
|
ENST00000371857.8:n.2347C>G
|
|
|
|
ENST00000460510.6:c.85C>G
|
ENSP00000512812.1:p.Gln29Glu
|
|
|
ENST00000466081.6:n.2451C>G
|
|
|
|
ENST00000477270.6:c.847C>G
|
ENSP00000512813.1:p.Gln283Glu
|
|
|
ENST00000479522.6:c.*231C>G
|
ENSP00000424113.1:n.*231C>G
|
|
|
ENST00000484444.6:c.*243C>G
|
ENSP00000420975.1:n.*243C>G
|
|
|
ENST00000488877.6:c.693C>G
|
ENSP00000425159.1:n.693C>G
|
|
|
ENST00000492756.7:c.*231C>G
|
ENSP00000422453.1:n.*231C>G
|
|
|
ENST00000494799.6:c.85C>G
|
ENSP00000512834.1:p.Gln29Glu
|
|
|
ENST00000562983.3:c.85C>G
|
ENSP00000512845.1:p.Gln29Glu
|
|
|
ENST00000612663.6:c.*204C>G
|
ENSP00000477997.3:n.*204C>G
|
|
|
ENST00000640140.2:n.947C>G
|
|
|
|
ENST00000640250.2:n.301C>G
|
|
|
|
ENST00000640681.2:n.906C>G
|
|
|
|
ENST00000696723.1:n.4435C>G
|
|
|
|
ENST00000696741.1:n.2440C>G
|
|
|
|
ENST00000696742.1:n.2167C>G
|
|
|
|
ENST00000696743.1:n.3570C>G
|
|
|
|
ENST00000696744.1:n.841C>G
|
|
|
|
ENST00000696767.1:n.1136C>G
|
|
|
|
ENST00000696768.1:c.*125C>G
|
ENSP00000512859.1:n.*125C>G
|
|
|
ENST00000696769.1:n.2491C>G
|
|
|
|
ENST00000696771.1:c.85C>G
|
ENSP00000512860.1:p.Gln29Glu
|
|
|
ENST00000696772.1:n.2405C>G
|
|
|
|
ENST00000696773.1:n.2144C>G
|
|
|
|
ENST00000696774.1:n.5912C>G
|
|
|
|
ENST00000696776.1:c.895C>G
|
ENSP00000512861.1:p.Gln299Glu
|
|
|
ENST00000696777.1:n.2210C>G
|
|
|
|
ENST00000696778.1:n.1238C>G
|
|
|
|
ENST00000696779.1:c.409C>G
|
ENSP00000512862.1:p.Gln137Glu
|
|
|
ENST00000696780.1:c.832C>G
|
ENSP00000512863.1:p.Gln278Glu
|
|
|
ENST00000696781.1:c.547C>G
|
ENSP00000512864.1:p.Gln183Glu
|
|
|
ENST00000696782.1:c.*204C>G
|
ENSP00000512865.1:n.*204C>G
|
|
|
ENST00000696783.1:n.2670C>G
|
|
|
|
ENST00000696992.1:n.1919C>G
|
|
|
|
ENST00000696995.1:n.4331C>G
|
|
|
|
ENST00000696996.1:n.2244C>G
|
|
|
|
ENST00000696997.1:c.*432C>G
|
ENSP00000513028.1:n.*432C>G
|
|
|
ENST00000696998.1:n.2056C>G
|
|
|
|
ENST00000696999.1:c.85C>G
|
ENSP00000513029.1:p.Gln29Glu
|
|
|
ENST00000697035.1:c.*135C>G
|
ENSP00000513059.1:n.*135C>G
|
|
|
ENST00000697036.1:c.*218C>G
|
ENSP00000513060.1:n.*218C>G
|
|
|
ENST00000697037.1:n.837C>G
|
|
|
|
ENST00000697093.1:n.3038C>G
|
|
|
|
ENST00000697094.1:n.3385C>G
|
|
|
|
ENST00000697095.1:c.*2003C>G
|
ENSP00000513104.1:n.*2003C>G
|
|
|
ENST00000697096.1:n.1935C>G
|
|
|
|
ENST00000697097.1:c.85C>G
|
ENSP00000513105.1:p.Gln29Glu
|
|
|
ENST00000562983.2:n.988C>G
|
|
|
|
ENST00000690268.1:c.883C>G
|
ENSP00000509810.1:p.Gln295Glu
|
|
|
ENST00000355740.7:c.*128C>G
|
ENSP00000347979.3:n.*128C>G
|
|
|
ENST00000612663.5:c.*204C>G
|
ENSP00000477997.3:n.*204C>G
|
|
|
ENST00000640140.1:n.974C>G
|
|
|
|
ENST00000640250.1:n.301C>G
|
|
|
|
ENST00000640681.1:n.923C>G
|
|
|
|
ENST00000652046.1:c.802C>G
MANE Select
|
ENSP00000498466.1:p.Gln268Glu
|
|
|
ENST00000352159.8:c.*119C>G
|
ENSP00000345601.4:n.*119C>G
|
|
|
ENST00000355279.2:c.777C>G
|
ENSP00000347426.2:n.777C>G
|
|
|
ENST00000355740.6:c.802C>G
|
ENSP00000347979.2:p.Gln268Glu
|
|
|
ENST00000357339.6:c.739C>G
|
ENSP00000349896.2:p.Gln247Glu
|
|
|
ENST00000479522.5:c.*231C>G
|
ENSP00000424113.1:n.*231C>G
|
|
|
ENST00000484444.5:c.*243C>G
|
ENSP00000420975.1:n.*243C>G
|
|
|
ENST00000488877.5:c.*243C>G
|
ENSP00000425159.1:n.*243C>G
|
|
|
ENST00000492756.5:c.630C>G
|
ENSP00000422453.1:n.630C>G
|
|
|
ENST00000494410.5:c.*160C>G
|
ENSP00000423755.1:n.*160C>G
|
|
|
ENST00000612663.4:c.*149C>G
|
ENSP00000477997.2:n.*149C>G
|
|
|
NM_000043.4:c.802C>G , LRG_134t1:c.802C>G
|
NP_000034.1:p.Gln268Glu
|
|
|
NM_152871.2:c.739C>G
|
NP_690610.1:p.Gln247Glu
|
|
|
NM_152872.2:c.*114C>G
|
NP_690611.1:n.*114C>G
|
|
|
NR_028033.2:n.976C>G
|
|
|
|
NR_028034.2:n.838C>G
|
|
|
|
NR_028035.2:n.901C>G
|
|
|
|
NR_028036.2:n.1039C>G
|
|
|
|
XM_006717819.2:c.883C>G
|
XP_006717882.1:p.Gln295Glu
|
|
|
XM_011539764.1:c.964C>G
|
XP_011538066.1:p.Gln322Glu
|
|
|
XM_011539765.1:c.901C>G
|
XP_011538067.1:p.Gln301Glu
|
|
|
XM_011539766.1:c.883C>G
|
XP_011538068.1:p.Gln295Glu
|
|
|
XM_011539767.1:c.847C>G
|
XP_011538069.1:p.Gln283Glu
|
|
|
XR_945732.1:n.870C>G
|
|
|
|
XR_945733.1:n.807C>G
|
|
|
|
NM_000043.5:c.802C>G
|
NP_000034.1:p.Gln268Glu
|
|
|
NM_001320619.1:c.*125C>G
|
NP_001307548.1:n.*125C>G
|
|
|
NM_152871.3:c.739C>G
|
NP_690610.1:p.Gln247Glu
|
|
|
NM_152872.3:c.*114C>G
|
NP_690611.1:n.*114C>G
|
|
|
NR_028033.3:n.948C>G
|
|
|
|
NR_028034.3:n.810C>G
|
|
|
|
NR_028035.3:n.873C>G
|
|
|
|
NR_028036.3:n.1011C>G
|
|
|
|
NR_135313.1:n.928C>G
|
|
|
|
NR_135314.1:n.1111C>G
|
|
|
|
NR_135315.1:n.864C>G
|
|
|
|
XM_006717819.3:c.883C>G
|
XP_006717882.1:p.Gln295Glu
|
|
|
XM_011539764.2:c.964C>G
|
XP_011538066.1:p.Gln322Glu
|
|
|
XM_011539765.2:c.901C>G
|
XP_011538067.1:p.Gln301Glu
|
|
|
XM_011539766.2:c.883C>G
|
XP_011538068.1:p.Gln295Glu
|
|
|
XM_011539767.3:c.847C>G
|
XP_011538069.1:p.Gln283Glu
|
|
|
XR_945732.3:n.870C>G
|
|
|
|
XR_945733.2:n.807C>G
|
|
|
|
NM_000043.6:c.802C>G
MANE Select
|
NP_000034.1:p.Gln268Glu
|
|
|
NM_001320619.2:c.*125C>G
|
NP_001307548.1:n.*125C>G
|
|
|
NM_152871.4:c.739C>G
|
NP_690610.1:p.Gln247Glu
|
|
|
NM_152872.4:c.*114C>G
|
NP_690611.1:n.*114C>G
|
|
|
NR_028033.4:n.709C>G
|
|
|
|
NR_028034.4:n.571C>G
|
|
|
|
NR_028035.4:n.634C>G
|
|
|
|
NR_028036.4:n.772C>G
|
|
|
|
NR_135313.2:n.689C>G
|
|
|
|
NR_135314.2:n.968C>G
|
|
|
|
NR_135315.2:n.721C>G
|
|
|
