|
ENST00000313771.10:n.1121C>G
|
|
|
|
ENST00000355740.8:c.*135C>G
|
ENSP00000347979.3:n.*135C>G
|
|
|
ENST00000357339.7:c.749C>G
|
ENSP00000349896.2:p.Ala250Gly
|
|
|
ENST00000371857.8:n.2357C>G
|
|
|
|
ENST00000460510.6:c.95C>G
|
ENSP00000512812.1:p.Ala32Gly
|
|
|
ENST00000466081.6:n.2461C>G
|
|
|
|
ENST00000477270.6:c.857C>G
|
ENSP00000512813.1:p.Ala286Gly
|
|
|
ENST00000479522.6:c.*241C>G
|
ENSP00000424113.1:n.*241C>G
|
|
|
ENST00000484444.6:c.*253C>G
|
ENSP00000420975.1:n.*253C>G
|
|
|
ENST00000488877.6:c.703C>G
|
ENSP00000425159.1:n.703C>G
|
|
|
ENST00000492756.7:c.*241C>G
|
ENSP00000422453.1:n.*241C>G
|
|
|
ENST00000494799.6:c.95C>G
|
ENSP00000512834.1:p.Ala32Gly
|
|
|
ENST00000562983.3:c.95C>G
|
ENSP00000512845.1:p.Ala32Gly
|
|
|
ENST00000612663.6:c.*214C>G
|
ENSP00000477997.3:n.*214C>G
|
|
|
ENST00000640140.2:n.957C>G
|
|
|
|
ENST00000640250.2:n.311C>G
|
|
|
|
ENST00000640681.2:n.916C>G
|
|
|
|
ENST00000696723.1:n.4445C>G
|
|
|
|
ENST00000696741.1:n.2450C>G
|
|
|
|
ENST00000696742.1:n.2177C>G
|
|
|
|
ENST00000696743.1:n.3580C>G
|
|
|
|
ENST00000696744.1:n.851C>G
|
|
|
|
ENST00000696767.1:n.1146C>G
|
|
|
|
ENST00000696768.1:c.*135C>G
|
ENSP00000512859.1:n.*135C>G
|
|
|
ENST00000696769.1:n.2501C>G
|
|
|
|
ENST00000696771.1:c.95C>G
|
ENSP00000512860.1:p.Ala32Gly
|
|
|
ENST00000696772.1:n.2415C>G
|
|
|
|
ENST00000696773.1:n.2154C>G
|
|
|
|
ENST00000696774.1:n.5922C>G
|
|
|
|
ENST00000696776.1:c.905C>G
|
ENSP00000512861.1:p.Ala302Gly
|
|
|
ENST00000696777.1:n.2220C>G
|
|
|
|
ENST00000696778.1:n.1248C>G
|
|
|
|
ENST00000696779.1:c.419C>G
|
ENSP00000512862.1:p.Ala140Gly
|
|
|
ENST00000696780.1:c.842C>G
|
ENSP00000512863.1:p.Ala281Gly
|
|
|
ENST00000696781.1:c.557C>G
|
ENSP00000512864.1:p.Ala186Gly
|
|
|
ENST00000696782.1:c.*214C>G
|
ENSP00000512865.1:n.*214C>G
|
|
|
ENST00000696783.1:n.2680C>G
|
|
|
|
ENST00000696992.1:n.1929C>G
|
|
|
|
ENST00000696995.1:n.4341C>G
|
|
|
|
ENST00000696996.1:n.2254C>G
|
|
|
|
ENST00000696997.1:c.*442C>G
|
ENSP00000513028.1:n.*442C>G
|
|
|
ENST00000696998.1:n.2066C>G
|
|
|
|
ENST00000696999.1:c.95C>G
|
ENSP00000513029.1:p.Ala32Gly
|
|
|
ENST00000697035.1:c.*145C>G
|
ENSP00000513059.1:n.*145C>G
|
|
|
ENST00000697036.1:c.*228C>G
|
ENSP00000513060.1:n.*228C>G
|
|
|
ENST00000697037.1:n.847C>G
|
|
|
|
ENST00000697093.1:n.3048C>G
|
|
|
|
ENST00000697094.1:n.3395C>G
|
|
|
|
ENST00000697095.1:c.*2013C>G
|
ENSP00000513104.1:n.*2013C>G
|
|
|
ENST00000697096.1:n.1945C>G
|
|
|
|
ENST00000697097.1:c.95C>G
|
ENSP00000513105.1:p.Ala32Gly
|
|
|
ENST00000562983.2:n.998C>G
|
|
|
|
ENST00000690268.1:c.893C>G
|
ENSP00000509810.1:p.Ala298Gly
|
|
|
ENST00000355740.7:c.*138C>G
|
ENSP00000347979.3:n.*138C>G
|
|
|
ENST00000612663.5:c.*214C>G
|
ENSP00000477997.3:n.*214C>G
|
|
|
ENST00000640140.1:n.984C>G
|
|
|
|
ENST00000640250.1:n.311C>G
|
|
|
|
ENST00000640681.1:n.933C>G
|
|
|
|
ENST00000652046.1:c.812C>G
MANE Select
|
ENSP00000498466.1:p.Ala271Gly
|
|
|
ENST00000352159.8:c.*129C>G
|
ENSP00000345601.4:n.*129C>G
|
|
|
ENST00000355279.2:c.787C>G
|
ENSP00000347426.2:n.787C>G
|
|
|
ENST00000355740.6:c.812C>G
|
ENSP00000347979.2:p.Ala271Gly
|
|
|
ENST00000357339.6:c.749C>G
|
ENSP00000349896.2:p.Ala250Gly
|
|
|
ENST00000479522.5:c.*241C>G
|
ENSP00000424113.1:n.*241C>G
|
|
|
ENST00000484444.5:c.*253C>G
|
ENSP00000420975.1:n.*253C>G
|
|
|
ENST00000488877.5:c.*253C>G
|
ENSP00000425159.1:n.*253C>G
|
|
|
ENST00000492756.5:c.640C>G
|
ENSP00000422453.1:n.640C>G
|
|
|
ENST00000494410.5:c.*170C>G
|
ENSP00000423755.1:n.*170C>G
|
|
|
ENST00000612663.4:c.*159C>G
|
ENSP00000477997.2:n.*159C>G
|
|
|
NM_000043.4:c.812C>G , LRG_134t1:c.812C>G
|
NP_000034.1:p.Ala271Gly
|
|
|
NM_152871.2:c.749C>G
|
NP_690610.1:p.Ala250Gly
|
|
|
NM_152872.2:c.*124C>G
|
NP_690611.1:n.*124C>G
|
|
|
NR_028033.2:n.986C>G
|
|
|
|
NR_028034.2:n.848C>G
|
|
|
|
NR_028035.2:n.911C>G
|
|
|
|
NR_028036.2:n.1049C>G
|
|
|
|
XM_006717819.2:c.893C>G
|
XP_006717882.1:p.Ala298Gly
|
|
|
XM_011539764.1:c.974C>G
|
XP_011538066.1:p.Ala325Gly
|
|
|
XM_011539765.1:c.911C>G
|
XP_011538067.1:p.Ala304Gly
|
|
|
XM_011539766.1:c.893C>G
|
XP_011538068.1:p.Ala298Gly
|
|
|
XM_011539767.1:c.857C>G
|
XP_011538069.1:p.Ala286Gly
|
|
|
XR_945732.1:n.880C>G
|
|
|
|
XR_945733.1:n.817C>G
|
|
|
|
NM_000043.5:c.812C>G
|
NP_000034.1:p.Ala271Gly
|
|
|
NM_001320619.1:c.*135C>G
|
NP_001307548.1:n.*135C>G
|
|
|
NM_152871.3:c.749C>G
|
NP_690610.1:p.Ala250Gly
|
|
|
NM_152872.3:c.*124C>G
|
NP_690611.1:n.*124C>G
|
|
|
NR_028033.3:n.958C>G
|
|
|
|
NR_028034.3:n.820C>G
|
|
|
|
NR_028035.3:n.883C>G
|
|
|
|
NR_028036.3:n.1021C>G
|
|
|
|
NR_135313.1:n.938C>G
|
|
|
|
NR_135314.1:n.1121C>G
|
|
|
|
NR_135315.1:n.874C>G
|
|
|
|
XM_006717819.3:c.893C>G
|
XP_006717882.1:p.Ala298Gly
|
|
|
XM_011539764.2:c.974C>G
|
XP_011538066.1:p.Ala325Gly
|
|
|
XM_011539765.2:c.911C>G
|
XP_011538067.1:p.Ala304Gly
|
|
|
XM_011539766.2:c.893C>G
|
XP_011538068.1:p.Ala298Gly
|
|
|
XM_011539767.3:c.857C>G
|
XP_011538069.1:p.Ala286Gly
|
|
|
XR_945732.3:n.880C>G
|
|
|
|
XR_945733.2:n.817C>G
|
|
|
|
NM_000043.6:c.812C>G
MANE Select
|
NP_000034.1:p.Ala271Gly
|
|
|
NM_001320619.2:c.*135C>G
|
NP_001307548.1:n.*135C>G
|
|
|
NM_152871.4:c.749C>G
|
NP_690610.1:p.Ala250Gly
|
|
|
NM_152872.4:c.*124C>G
|
NP_690611.1:n.*124C>G
|
|
|
NR_028033.4:n.719C>G
|
|
|
|
NR_028034.4:n.581C>G
|
|
|
|
NR_028035.4:n.644C>G
|
|
|
|
NR_028036.4:n.782C>G
|
|
|
|
NR_135313.2:n.699C>G
|
|
|
|
NR_135314.2:n.978C>G
|
|
|
|
NR_135315.2:n.731C>G
|
|
|
