|
NM_000516.7:c.308T>C
MANE Select
|
NP_000507.1:p.Ile103Thr
|
|
ENST00000371085.8:c.308T>C
MANE Select
|
ENSP00000360126.3:p.Ile103Thr
|
|
NM_016592.5:c.*214T>C
MANE Plus Clinical
|
NP_057676.1:n.*214T>C
|
|
NM_080425.4:c.2237T>C
MANE Plus Clinical
|
NP_536350.2:p.Ile746Thr
|
|
ENST00000371075.7:c.*214T>C
MANE Plus Clinical
|
ENSP00000360115.3:n.*214T>C
|
|
ENST00000371100.9:c.2237T>C
MANE Plus Clinical
|
ENSP00000360141.3:p.Ile746Thr
|
|
NM_000516.4:c.308T>C
|
NP_000507.1:p.Ile103Thr
|
|
NM_000516.5:c.308T>C
|
NP_000507.1:p.Ile103Thr
|
|
NM_000516.6:c.308T>C
|
NP_000507.1:p.Ile103Thr
|
|
NM_001077488.2:c.311T>C
|
NP_001070956.1:p.Ile104Thr
|
|
NM_001077488.3:c.311T>C
|
NP_001070956.1:p.Ile104Thr
|
|
NM_001077488.4:c.311T>C
|
NP_001070956.1:p.Ile104Thr
|
|
NM_001077488.5:c.311T>C
|
NP_001070956.1:p.Ile104Thr
|
|
NM_001077489.2:c.263T>C
|
NP_001070957.1:p.Ile88Thr
|
|
NM_001077489.3:c.263T>C
|
NP_001070957.1:p.Ile88Thr
|
|
NM_001077489.4:c.263T>C
|
NP_001070957.1:p.Ile88Thr
|
|
NM_001077490.1:c.*169T>C
|
NP_001070958.1:n.*169T>C
|
|
NM_001077490.2:c.*169T>C
|
NP_001070958.1:n.*169T>C
|
|
NM_001077490.3:c.*169T>C
|
NP_001070958.1:n.*169T>C
|
|
NM_001309840.1:c.131T>C
|
NP_001296769.1:p.Ile44Thr
|
|
NM_001309840.2:c.131T>C
|
NP_001296769.1:p.Ile44Thr
|
|
NM_001309861.1:c.131T>C
|
NP_001296790.1:p.Ile44Thr
|
|
NM_001309861.2:c.131T>C
|
NP_001296790.1:p.Ile44Thr
|
|
NM_016592.2:c.*214T>C
|
NP_057676.1:n.*214T>C
|
|
NM_016592.3:c.*214T>C
|
NP_057676.1:n.*214T>C
|
|
NM_016592.4:c.*214T>C
|
NP_057676.1:n.*214T>C
|
|
NM_080425.2:c.2237T>C
|
NP_536350.2:p.Ile746Thr
|
|
NM_080425.3:c.2237T>C
|
NP_536350.2:p.Ile746Thr
|
|
NM_080426.2:c.266T>C
|
NP_536351.1:p.Ile89Thr
|
|
NM_080426.3:c.266T>C
|
NP_536351.1:p.Ile89Thr
|
|
NM_080426.4:c.266T>C
|
NP_536351.1:p.Ile89Thr
|
|
NR_003259.1:c.-4294966898T>C
|
|
|
ENST00000265620.11:c.263T>C
|
ENSP00000265620.7:p.Ile88Thr
|
|
ENST00000306090.11:c.94-6186T>C
|
ENSP00000304472.11:n.94-6186T>C
|
|
ENST00000306090.12:c.212T>C
|
ENSP00000304472.12:p.Ile71Thr
|
|
ENST00000313949.11:c.*211T>C
|
ENSP00000323571.7:n.*211T>C
|
|
ENST00000349036.7:c.359T>C
|
ENSP00000265621.4:p.Ile120Thr
|
|
ENST00000349036.8:c.2192T>C
|
ENSP00000265621.5:p.Ile731Thr
|
|
ENST00000349036.9:c.2192T>C
|
ENSP00000265621.6:p.Ile731Thr
|
|
ENST00000354359.11:c.311T>C
|
ENSP00000346328.7:p.Ile104Thr
|
|
ENST00000354359.12:c.311T>C
|
ENSP00000346328.7:p.Ile104Thr
|
|
ENST00000371085.7:c.308T>C
|
ENSP00000360126.3:p.Ile103Thr
|
|
ENST00000371095.7:c.266T>C
|
ENSP00000360136.3:p.Ile89Thr
|
|
ENST00000371100.8:c.2237T>C
|
ENSP00000360141.3:p.Ile746Thr
|
|
ENST00000371102.8:c.2195T>C
|
ENSP00000360143.4:p.Ile732Thr
|
|
ENST00000419558.5:c.507T>C
|
|
|
ENST00000419558.6:c.*166T>C
|
ENSP00000416234.2:n.*166T>C
|
|
ENST00000419558.7:c.*166T>C
|
ENSP00000416234.2:n.*166T>C
|
|
ENST00000450130.5:c.351T>C
|
|
|
ENST00000453292.7:c.907T>C
|
ENSP00000392000.2:n.907T>C
|
|
ENST00000461152.5:n.274T>C
|
|
|
ENST00000461152.6:c.1036T>C
|
ENSP00000499274.1:n.1036T>C
|
|
ENST00000462499.5:n.385T>C
|
|
|
ENST00000462499.6:c.89T>C
|
ENSP00000499758.2:p.Ile30Thr
|
|
ENST00000464624.6:n.2524T>C
|
|
|
ENST00000464624.7:c.*150T>C
|
ENSP00000499607.2:n.*150T>C
|
|
ENST00000464788.5:n.236T>C
|
|
|
ENST00000464788.6:c.131T>C
|
ENSP00000499239.2:p.Ile44Thr
|
|
ENST00000467227.5:n.249T>C
|
|
|
ENST00000467227.6:c.89T>C
|
ENSP00000499681.2:p.Ile30Thr
|
|
ENST00000467321.5:n.323T>C
|
|
|
ENST00000467321.6:c.131T>C
|
ENSP00000499523.2:p.Ile44Thr
|
|
ENST00000468895.5:n.177T>C
|
|
|
ENST00000468895.6:c.308T>C
|
ENSP00000499551.2:p.Ile103Thr
|
|
ENST00000469431.5:n.425T>C
|
|
|
ENST00000469431.6:c.131T>C
|
ENSP00000499654.2:p.Ile44Thr
|
|
ENST00000470512.5:n.382T>C
|
|
|
ENST00000470512.6:c.134T>C
|
ENSP00000499552.2:p.Ile45Thr
|
|
ENST00000472183.5:n.560T>C
|
|
|
ENST00000472183.6:c.131T>C
|
ENSP00000499673.2:p.Ile44Thr
|
|
ENST00000475610.2:n.814T>C
|
|
|
ENST00000476196.5:n.601T>C
|
|
|
ENST00000476935.5:n.297T>C
|
|
|
ENST00000476935.6:c.86T>C
|
ENSP00000499409.2:p.Ile29Thr
|
|
ENST00000477931.5:n.423T>C
|
|
|
ENST00000478585.5:n.321T>C
|
|
|
ENST00000478585.6:c.89T>C
|
ENSP00000499762.2:p.Ile30Thr
|
|
ENST00000480232.5:n.327T>C
|
|
|
ENST00000480232.6:c.134T>C
|
ENSP00000499545.2:p.Ile45Thr
|
|
ENST00000480975.5:n.307T>C
|
|
|
ENST00000481039.5:n.225T>C
|
|
|
ENST00000481039.6:c.89T>C
|
ENSP00000499767.2:p.Ile30Thr
|
|
ENST00000482112.5:n.382T>C
|
|
|
ENST00000482112.6:c.86T>C
|
ENSP00000499794.2:p.Ile29Thr
|
|
ENST00000485673.5:n.553T>C
|
|
|
ENST00000485673.6:c.89T>C
|
ENSP00000499334.2:p.Ile30Thr
|
|
ENST00000487862.5:n.542T>C
|
|
|
ENST00000487981.5:n.45T>C
|
|
|
ENST00000488546.5:n.167T>C
|
|
|
ENST00000488546.6:c.89T>C
|
ENSP00000499332.2:p.Ile30Thr
|
|
ENST00000488652.5:n.398T>C
|
|
|
ENST00000488652.6:c.131T>C
|
ENSP00000499435.2:p.Ile44Thr
|
|
ENST00000490374.5:n.426T>C
|
|
|
ENST00000490374.6:n.473T>C
|
|
|
ENST00000492907.5:n.259T>C
|
|
|
ENST00000492907.6:c.89T>C
|
ENSP00000499443.2:p.Ile30Thr
|
|
ENST00000494081.5:n.51T>C
|
|
|
ENST00000496934.5:n.1597T>C
|
|
|
ENST00000603546.1:c.131T>C
|
ENSP00000474802.1:p.Ile44Thr
|
|
ENST00000603546.2:c.131T>C
|
ENSP00000474802.2:p.Ile44Thr
|
|
ENST00000604005.5:c.131T>C
|
ENSP00000474219.1:p.Ile44Thr
|
|
ENST00000604005.6:c.131T>C
|
ENSP00000474219.2:p.Ile44Thr
|
|
ENST00000657090.1:c.131T>C
|
ENSP00000499380.1:p.Ile44Thr
|
|
ENST00000663479.1:c.134T>C
|
ENSP00000499353.1:p.Ile45Thr
|
|
ENST00000663479.2:c.134T>C
|
ENSP00000499353.2:p.Ile45Thr
|
|
ENST00000667293.1:c.179T>C
|
ENSP00000499293.1:p.Ile60Thr
|
|
ENST00000667293.2:c.131T>C
|
ENSP00000499293.2:p.Ile44Thr
|
|
ENST00000676826.1:c.2240T>C
|
ENSP00000504675.1:p.Ile747Thr
|
|
ENST00000676826.2:c.2240T>C
|
ENSP00000504675.2:p.Ile747Thr
|
|
ENST00000682092.1:n.814T>C
|
|
|
ENST00000682134.1:n.2234T>C
|
|
|
ENST00000682411.1:n.812T>C
|
|
|
ENST00000682590.1:n.814T>C
|
|
|
ENST00000682680.1:n.742T>C
|
|
|
ENST00000682803.1:c.-20T>C
|
ENSP00000507069.1:n.-20T>C
|
|
ENST00000682829.1:n.2636T>C
|
|
|
ENST00000682917.1:n.750T>C
|
|
|
ENST00000682986.1:n.814T>C
|
|
|
ENST00000683015.1:c.1078T>C
|
ENSP00000506815.1:n.1078T>C
|
|
ENST00000683632.1:n.823T>C
|
|
|
ENST00000683932.1:n.812T>C
|
|
|
ENST00000684284.1:n.2686T>C
|
|
|
ENST00000684466.1:n.814T>C
|
|
|
ENST00000684644.1:n.814T>C
|
|
|
ENST00000684761.1:n.814T>C
|
|
|
XM_017027812.2:c.2240T>C
|
XP_016883301.1:p.Ile747Thr
|
|
XM_017027813.2:c.2195T>C
|
XP_016883302.1:p.Ile732Thr
|
|
XM_017027814.2:c.2192T>C
|
XP_016883303.1:p.Ile731Thr
|
|
XM_017027815.1:c.167T>C
|
XP_016883304.1:p.Ile56Thr
|
|
XM_017027816.1:c.86T>C
|
XP_016883305.1:p.Ile29Thr
|
|
XM_017027817.1:c.86T>C
|
XP_016883306.1:p.Ile29Thr
|
|
XM_017027818.2:c.86T>C
|
XP_016883307.1:p.Ile29Thr
|
|
XM_017027819.1:c.86T>C
|
XP_016883308.1:p.Ile29Thr
|
|
XM_017027820.1:c.86T>C
|
XP_016883309.1:p.Ile29Thr
|
|
XM_017027821.1:c.*211T>C
|
XP_016883310.1:n.*211T>C
|
|
XM_017027822.1:c.*166T>C
|
XP_016883311.1:n.*166T>C
|
|
XM_024451872.1:c.212T>C
|
XP_024307640.1:p.Ile71Thr
|
|
XM_024451873.1:c.131T>C
|
XP_024307641.1:p.Ile44Thr
|
|
XM_024451874.1:c.131T>C
|
XP_024307642.1:p.Ile44Thr
|
|
XM_024451875.1:c.131T>C
|
XP_024307643.1:p.Ile44Thr
|
|
XR_002958471.1:n.1015T>C
|
|
