ENST00000313771.10:n.1304A>C
|
|
|
ENST00000355740.8:c.*318A>C
|
ENSP00000347979.3:n.*318A>C
|
|
ENST00000357339.7:c.932A>C
|
ENSP00000349896.2:p.Gln311Pro
|
|
ENST00000371857.8:n.2540A>C
|
|
|
ENST00000460510.6:c.278A>C
|
ENSP00000512812.1:p.Gln93Pro
|
|
ENST00000466081.6:n.2644A>C
|
|
|
ENST00000477270.6:c.1040A>C
|
ENSP00000512813.1:p.Gln347Pro
|
|
ENST00000479522.6:c.*424A>C
|
ENSP00000424113.1:n.*424A>C
|
|
ENST00000484444.6:c.*436A>C
|
ENSP00000420975.1:n.*436A>C
|
|
ENST00000488877.6:c.886A>C
|
ENSP00000425159.1:n.886A>C
|
|
ENST00000492756.7:c.*424A>C
|
ENSP00000422453.1:n.*424A>C
|
|
ENST00000494799.6:c.278A>C
|
ENSP00000512834.1:p.Gln93Pro
|
|
ENST00000562983.3:c.278A>C
|
ENSP00000512845.1:p.Gln93Pro
|
|
ENST00000612663.6:c.*397A>C
|
ENSP00000477997.3:n.*397A>C
|
|
ENST00000640140.2:n.1140A>C
|
|
|
ENST00000640250.2:n.494A>C
|
|
|
ENST00000640681.2:n.1099A>C
|
|
|
ENST00000696723.1:n.4628A>C
|
|
|
ENST00000696741.1:n.2633A>C
|
|
|
ENST00000696742.1:n.2360A>C
|
|
|
ENST00000696743.1:n.3763A>C
|
|
|
ENST00000696744.1:n.1034A>C
|
|
|
ENST00000696767.1:n.1329A>C
|
|
|
ENST00000696768.1:c.*318A>C
|
ENSP00000512859.1:n.*318A>C
|
|
ENST00000696769.1:n.2684A>C
|
|
|
ENST00000696771.1:c.278A>C
|
ENSP00000512860.1:p.Gln93Pro
|
|
ENST00000696772.1:n.2598A>C
|
|
|
ENST00000696773.1:n.2337A>C
|
|
|
ENST00000696774.1:n.6105A>C
|
|
|
ENST00000696776.1:c.1088A>C
|
ENSP00000512861.1:p.Gln363Pro
|
|
ENST00000696777.1:n.2403A>C
|
|
|
ENST00000696778.1:n.1431A>C
|
|
|
ENST00000696779.1:c.602A>C
|
ENSP00000512862.1:p.Gln201Pro
|
|
ENST00000696780.1:c.1025A>C
|
ENSP00000512863.1:p.Gln342Pro
|
|
ENST00000696781.1:c.740A>C
|
ENSP00000512864.1:p.Gln247Pro
|
|
ENST00000696782.1:c.*397A>C
|
ENSP00000512865.1:n.*397A>C
|
|
ENST00000696783.1:n.2863A>C
|
|
|
ENST00000696992.1:n.2112A>C
|
|
|
ENST00000696995.1:n.4524A>C
|
|
|
ENST00000696996.1:n.2437A>C
|
|
|
ENST00000696997.1:c.*625A>C
|
ENSP00000513028.1:n.*625A>C
|
|
ENST00000696998.1:n.2249A>C
|
|
|
ENST00000696999.1:c.278A>C
|
ENSP00000513029.1:p.Gln93Pro
|
|
ENST00000697036.1:c.*411A>C
|
ENSP00000513060.1:n.*411A>C
|
|
ENST00000697037.1:n.1030A>C
|
|
|
ENST00000697093.1:n.3231A>C
|
|
|
ENST00000697094.1:n.3578A>C
|
|
|
ENST00000697095.1:c.*2196A>C
|
ENSP00000513104.1:n.*2196A>C
|
|
ENST00000697096.1:n.2128A>C
|
|
|
ENST00000697097.1:c.278A>C
|
ENSP00000513105.1:p.Gln93Pro
|
|
ENST00000562983.2:n.1181A>C
|
|
|
ENST00000690268.1:c.1076A>C
|
ENSP00000509810.1:p.Gln359Pro
|
|
ENST00000355740.7:c.*321A>C
|
ENSP00000347979.3:n.*321A>C
|
|
ENST00000612663.5:c.*397A>C
|
ENSP00000477997.3:n.*397A>C
|
|
ENST00000640140.1:n.1167A>C
|
|
|
ENST00000640250.1:n.494A>C
|
|
|
ENST00000640681.1:n.1116A>C
|
|
|
ENST00000652046.1:c.995A>C
MANE Select
|
ENSP00000498466.1:p.Gln332Pro
|
|
ENST00000352159.8:c.*312A>C
|
ENSP00000345601.4:n.*312A>C
|
|
ENST00000355279.2:c.970A>C
|
ENSP00000347426.2:n.970A>C
|
|
ENST00000355740.6:c.995A>C
|
ENSP00000347979.2:p.Gln332Pro
|
|
ENST00000357339.6:c.932A>C
|
ENSP00000349896.2:p.Gln311Pro
|
|
ENST00000479522.5:c.*424A>C
|
ENSP00000424113.1:n.*424A>C
|
|
ENST00000484444.5:c.*436A>C
|
ENSP00000420975.1:n.*436A>C
|
|
ENST00000488877.5:c.*436A>C
|
ENSP00000425159.1:n.*436A>C
|
|
ENST00000492756.5:c.823A>C
|
ENSP00000422453.1:n.823A>C
|
|
ENST00000494410.5:c.*353A>C
|
ENSP00000423755.1:n.*353A>C
|
|
ENST00000612663.4:c.*342A>C
|
ENSP00000477997.2:n.*342A>C
|
|
NM_000043.4:c.995A>C , LRG_134t1:c.995A>C
|
NP_000034.1:p.Gln332Pro
|
|
NM_152871.2:c.932A>C
|
NP_690610.1:p.Gln311Pro
|
|
NM_152872.2:c.*307A>C
|
NP_690611.1:n.*307A>C
|
|
NR_028033.2:n.1169A>C
|
|
|
NR_028034.2:n.1031A>C
|
|
|
NR_028035.2:n.1094A>C
|
|
|
NR_028036.2:n.1232A>C
|
|
|
XM_006717819.2:c.1076A>C
|
XP_006717882.1:p.Gln359Pro
|
|
XM_011539764.1:c.1157A>C
|
XP_011538066.1:p.Gln386Pro
|
|
XM_011539765.1:c.1094A>C
|
XP_011538067.1:p.Gln365Pro
|
|
XM_011539766.1:c.1076A>C
|
XP_011538068.1:p.Gln359Pro
|
|
XM_011539767.1:c.1040A>C
|
XP_011538069.1:p.Gln347Pro
|
|
XR_945733.1:n.1000A>C
|
|
|
NM_000043.5:c.995A>C
|
NP_000034.1:p.Gln332Pro
|
|
NM_001320619.1:c.*318A>C
|
NP_001307548.1:n.*318A>C
|
|
NM_152871.3:c.932A>C
|
NP_690610.1:p.Gln311Pro
|
|
NM_152872.3:c.*307A>C
|
NP_690611.1:n.*307A>C
|
|
NR_028033.3:n.1141A>C
|
|
|
NR_028034.3:n.1003A>C
|
|
|
NR_028035.3:n.1066A>C
|
|
|
NR_028036.3:n.1204A>C
|
|
|
NR_135313.1:n.1121A>C
|
|
|
NR_135314.1:n.1304A>C
|
|
|
NR_135315.1:n.1057A>C
|
|
|
XM_006717819.3:c.1076A>C
|
XP_006717882.1:p.Gln359Pro
|
|
XM_011539764.2:c.1157A>C
|
XP_011538066.1:p.Gln386Pro
|
|
XM_011539765.2:c.1094A>C
|
XP_011538067.1:p.Gln365Pro
|
|
XM_011539766.2:c.1076A>C
|
XP_011538068.1:p.Gln359Pro
|
|
XM_011539767.3:c.1040A>C
|
XP_011538069.1:p.Gln347Pro
|
|
XR_945732.3:n.1063A>C
|
|
|
XR_945733.2:n.1000A>C
|
|
|
NM_000043.6:c.995A>C
MANE Select
|
NP_000034.1:p.Gln332Pro
|
|
NM_001320619.2:c.*318A>C
|
NP_001307548.1:n.*318A>C
|
|
NM_152871.4:c.932A>C
|
NP_690610.1:p.Gln311Pro
|
|
NM_152872.4:c.*307A>C
|
NP_690611.1:n.*307A>C
|
|
NR_028033.4:n.902A>C
|
|
|
NR_028034.4:n.764A>C
|
|
|
NR_028035.4:n.827A>C
|
|
|
NR_028036.4:n.965A>C
|
|
|
NR_135313.2:n.882A>C
|
|
|
NR_135314.2:n.1161A>C
|
|
|
NR_135315.2:n.914A>C
|
|
|