ENST00000313771.10:n.1075G>C
|
|
|
ENST00000355740.8:c.*89G>C
|
ENSP00000347979.3:n.*89G>C
|
|
ENST00000357339.7:c.703G>C
|
ENSP00000349896.2:p.Glu235Gln
|
|
ENST00000371857.8:n.2311G>C
|
|
|
ENST00000460510.6:c.49G>C
|
ENSP00000512812.1:p.Glu17Gln
|
|
ENST00000466081.6:n.2415G>C
|
|
|
ENST00000477270.6:c.811G>C
|
ENSP00000512813.1:p.Glu271Gln
|
|
ENST00000479522.6:c.*195G>C
|
ENSP00000424113.1:n.*195G>C
|
|
ENST00000484444.6:c.*207G>C
|
ENSP00000420975.1:n.*207G>C
|
|
ENST00000488877.6:c.657G>C
|
ENSP00000425159.1:n.657G>C
|
|
ENST00000492756.7:c.*195G>C
|
ENSP00000422453.1:n.*195G>C
|
|
ENST00000494799.6:c.49G>C
|
ENSP00000512834.1:p.Glu17Gln
|
|
ENST00000562983.3:c.49G>C
|
ENSP00000512845.1:p.Glu17Gln
|
|
ENST00000612663.6:c.*168G>C
|
ENSP00000477997.3:n.*168G>C
|
|
ENST00000640140.2:n.911G>C
|
|
|
ENST00000640250.2:n.265G>C
|
|
|
ENST00000640681.2:n.870G>C
|
|
|
ENST00000696723.1:n.4399G>C
|
|
|
ENST00000696741.1:n.2404G>C
|
|
|
ENST00000696742.1:n.2131G>C
|
|
|
ENST00000696743.1:n.3534G>C
|
|
|
ENST00000696744.1:n.805G>C
|
|
|
ENST00000696767.1:n.1100G>C
|
|
|
ENST00000696768.1:c.*89G>C
|
ENSP00000512859.1:n.*89G>C
|
|
ENST00000696769.1:n.2455G>C
|
|
|
ENST00000696771.1:c.49G>C
|
ENSP00000512860.1:p.Glu17Gln
|
|
ENST00000696772.1:n.2369G>C
|
|
|
ENST00000696773.1:n.2108G>C
|
|
|
ENST00000696774.1:n.5876G>C
|
|
|
ENST00000696776.1:c.859G>C
|
ENSP00000512861.1:p.Glu287Gln
|
|
ENST00000696777.1:n.2174G>C
|
|
|
ENST00000696778.1:n.1202G>C
|
|
|
ENST00000696779.1:c.373G>C
|
ENSP00000512862.1:p.Glu125Gln
|
|
ENST00000696780.1:c.796G>C
|
ENSP00000512863.1:p.Glu266Gln
|
|
ENST00000696781.1:c.511G>C
|
ENSP00000512864.1:p.Glu171Gln
|
|
ENST00000696782.1:c.*168G>C
|
ENSP00000512865.1:n.*168G>C
|
|
ENST00000696783.1:n.2634G>C
|
|
|
ENST00000696992.1:n.1883G>C
|
|
|
ENST00000696995.1:n.4295G>C
|
|
|
ENST00000696996.1:n.2208G>C
|
|
|
ENST00000696997.1:c.*396G>C
|
ENSP00000513028.1:n.*396G>C
|
|
ENST00000696998.1:n.2020G>C
|
|
|
ENST00000696999.1:c.49G>C
|
ENSP00000513029.1:p.Glu17Gln
|
|
ENST00000697035.1:c.*99G>C
|
ENSP00000513059.1:n.*99G>C
|
|
ENST00000697036.1:c.*182G>C
|
ENSP00000513060.1:n.*182G>C
|
|
ENST00000697037.1:n.801G>C
|
|
|
ENST00000697093.1:n.3002G>C
|
|
|
ENST00000697094.1:n.3349G>C
|
|
|
ENST00000697095.1:c.*1967G>C
|
ENSP00000513104.1:n.*1967G>C
|
|
ENST00000697096.1:n.1899G>C
|
|
|
ENST00000697097.1:c.49G>C
|
ENSP00000513105.1:p.Glu17Gln
|
|
ENST00000562983.2:n.952G>C
|
|
|
ENST00000690268.1:c.847G>C
|
ENSP00000509810.1:p.Glu283Gln
|
|
ENST00000355740.7:c.*92G>C
|
ENSP00000347979.3:n.*92G>C
|
|
ENST00000612663.5:c.*168G>C
|
ENSP00000477997.3:n.*168G>C
|
|
ENST00000640140.1:n.938G>C
|
|
|
ENST00000640250.1:n.265G>C
|
|
|
ENST00000640681.1:n.887G>C
|
|
|
ENST00000652046.1:c.766G>C
MANE Select
|
ENSP00000498466.1:p.Glu256Gln
|
|
ENST00000352159.8:c.*83G>C
|
ENSP00000345601.4:n.*83G>C
|
|
ENST00000355279.2:c.741G>C
|
ENSP00000347426.2:n.741G>C
|
|
ENST00000355740.6:c.766G>C
|
ENSP00000347979.2:p.Glu256Gln
|
|
ENST00000357339.6:c.703G>C
|
ENSP00000349896.2:p.Glu235Gln
|
|
ENST00000479522.5:c.*195G>C
|
ENSP00000424113.1:n.*195G>C
|
|
ENST00000484444.5:c.*207G>C
|
ENSP00000420975.1:n.*207G>C
|
|
ENST00000488877.5:c.*207G>C
|
ENSP00000425159.1:n.*207G>C
|
|
ENST00000492756.5:c.594G>C
|
ENSP00000422453.1:n.594G>C
|
|
ENST00000494410.5:c.*124G>C
|
ENSP00000423755.1:n.*124G>C
|
|
ENST00000494799.5:n.673G>C
|
|
|
ENST00000612663.4:c.*113G>C
|
ENSP00000477997.2:n.*113G>C
|
|
ENST00000615406.4:c.764G>C
|
ENSP00000484575.1:p.Ter255Ser
|
|
NM_000043.4:c.766G>C , LRG_134t1:c.766G>C
|
NP_000034.1:p.Glu256Gln
|
|
NM_152871.2:c.703G>C
|
NP_690610.1:p.Glu235Gln
|
|
NM_152872.2:c.*78G>C
|
NP_690611.1:n.*78G>C
|
|
NR_028033.2:n.940G>C
|
|
|
NR_028034.2:n.802G>C
|
|
|
NR_028035.2:n.865G>C
|
|
|
NR_028036.2:n.1003G>C
|
|
|
XM_006717819.2:c.847G>C
|
XP_006717882.1:p.Glu283Gln
|
|
XM_011539764.1:c.928G>C
|
XP_011538066.1:p.Glu310Gln
|
|
XM_011539765.1:c.865G>C
|
XP_011538067.1:p.Glu289Gln
|
|
XM_011539766.1:c.847G>C
|
XP_011538068.1:p.Glu283Gln
|
|
XM_011539767.1:c.811G>C
|
XP_011538069.1:p.Glu271Gln
|
|
XR_945732.1:n.834G>C
|
|
|
XR_945733.1:n.771G>C
|
|
|
NM_000043.5:c.766G>C
|
NP_000034.1:p.Glu256Gln
|
|
NM_001320619.1:c.*89G>C
|
NP_001307548.1:n.*89G>C
|
|
NM_152871.3:c.703G>C
|
NP_690610.1:p.Glu235Gln
|
|
NM_152872.3:c.*78G>C
|
NP_690611.1:n.*78G>C
|
|
NR_028033.3:n.912G>C
|
|
|
NR_028034.3:n.774G>C
|
|
|
NR_028035.3:n.837G>C
|
|
|
NR_028036.3:n.975G>C
|
|
|
NR_135313.1:n.892G>C
|
|
|
NR_135314.1:n.1075G>C
|
|
|
NR_135315.1:n.828G>C
|
|
|
XM_006717819.3:c.847G>C
|
XP_006717882.1:p.Glu283Gln
|
|
XM_011539764.2:c.928G>C
|
XP_011538066.1:p.Glu310Gln
|
|
XM_011539765.2:c.865G>C
|
XP_011538067.1:p.Glu289Gln
|
|
XM_011539766.2:c.847G>C
|
XP_011538068.1:p.Glu283Gln
|
|
XM_011539767.3:c.811G>C
|
XP_011538069.1:p.Glu271Gln
|
|
XR_945732.3:n.834G>C
|
|
|
XR_945733.2:n.771G>C
|
|
|
NM_000043.6:c.766G>C
MANE Select
|
NP_000034.1:p.Glu256Gln
|
|
NM_001320619.2:c.*89G>C
|
NP_001307548.1:n.*89G>C
|
|
NM_152871.4:c.703G>C
|
NP_690610.1:p.Glu235Gln
|
|
NM_152872.4:c.*78G>C
|
NP_690611.1:n.*78G>C
|
|
NR_028033.4:n.673G>C
|
|
|
NR_028034.4:n.535G>C
|
|
|
NR_028035.4:n.598G>C
|
|
|
NR_028036.4:n.736G>C
|
|
|
NR_135313.2:n.653G>C
|
|
|
NR_135314.2:n.932G>C
|
|
|
NR_135315.2:n.685G>C
|
|
|