ENST00000313771.10:n.1120G>C
|
|
|
ENST00000355740.8:c.*134G>C
|
ENSP00000347979.3:n.*134G>C
|
|
ENST00000357339.7:c.748G>C
|
ENSP00000349896.2:p.Ala250Pro
|
|
ENST00000371857.8:n.2356G>C
|
|
|
ENST00000460510.6:c.94G>C
|
ENSP00000512812.1:p.Ala32Pro
|
|
ENST00000466081.6:n.2460G>C
|
|
|
ENST00000477270.6:c.856G>C
|
ENSP00000512813.1:p.Ala286Pro
|
|
ENST00000479522.6:c.*240G>C
|
ENSP00000424113.1:n.*240G>C
|
|
ENST00000484444.6:c.*252G>C
|
ENSP00000420975.1:n.*252G>C
|
|
ENST00000488877.6:c.702G>C
|
ENSP00000425159.1:n.702G>C
|
|
ENST00000492756.7:c.*240G>C
|
ENSP00000422453.1:n.*240G>C
|
|
ENST00000494799.6:c.94G>C
|
ENSP00000512834.1:p.Ala32Pro
|
|
ENST00000562983.3:c.94G>C
|
ENSP00000512845.1:p.Ala32Pro
|
|
ENST00000612663.6:c.*213G>C
|
ENSP00000477997.3:n.*213G>C
|
|
ENST00000640140.2:n.956G>C
|
|
|
ENST00000640250.2:n.310G>C
|
|
|
ENST00000640681.2:n.915G>C
|
|
|
ENST00000696723.1:n.4444G>C
|
|
|
ENST00000696741.1:n.2449G>C
|
|
|
ENST00000696742.1:n.2176G>C
|
|
|
ENST00000696743.1:n.3579G>C
|
|
|
ENST00000696744.1:n.850G>C
|
|
|
ENST00000696767.1:n.1145G>C
|
|
|
ENST00000696768.1:c.*134G>C
|
ENSP00000512859.1:n.*134G>C
|
|
ENST00000696769.1:n.2500G>C
|
|
|
ENST00000696771.1:c.94G>C
|
ENSP00000512860.1:p.Ala32Pro
|
|
ENST00000696772.1:n.2414G>C
|
|
|
ENST00000696773.1:n.2153G>C
|
|
|
ENST00000696774.1:n.5921G>C
|
|
|
ENST00000696776.1:c.904G>C
|
ENSP00000512861.1:p.Ala302Pro
|
|
ENST00000696777.1:n.2219G>C
|
|
|
ENST00000696778.1:n.1247G>C
|
|
|
ENST00000696779.1:c.418G>C
|
ENSP00000512862.1:p.Ala140Pro
|
|
ENST00000696780.1:c.841G>C
|
ENSP00000512863.1:p.Ala281Pro
|
|
ENST00000696781.1:c.556G>C
|
ENSP00000512864.1:p.Ala186Pro
|
|
ENST00000696782.1:c.*213G>C
|
ENSP00000512865.1:n.*213G>C
|
|
ENST00000696783.1:n.2679G>C
|
|
|
ENST00000696992.1:n.1928G>C
|
|
|
ENST00000696995.1:n.4340G>C
|
|
|
ENST00000696996.1:n.2253G>C
|
|
|
ENST00000696997.1:c.*441G>C
|
ENSP00000513028.1:n.*441G>C
|
|
ENST00000696998.1:n.2065G>C
|
|
|
ENST00000696999.1:c.94G>C
|
ENSP00000513029.1:p.Ala32Pro
|
|
ENST00000697035.1:c.*144G>C
|
ENSP00000513059.1:n.*144G>C
|
|
ENST00000697036.1:c.*227G>C
|
ENSP00000513060.1:n.*227G>C
|
|
ENST00000697037.1:n.846G>C
|
|
|
ENST00000697093.1:n.3047G>C
|
|
|
ENST00000697094.1:n.3394G>C
|
|
|
ENST00000697095.1:c.*2012G>C
|
ENSP00000513104.1:n.*2012G>C
|
|
ENST00000697096.1:n.1944G>C
|
|
|
ENST00000697097.1:c.94G>C
|
ENSP00000513105.1:p.Ala32Pro
|
|
ENST00000562983.2:n.997G>C
|
|
|
ENST00000690268.1:c.892G>C
|
ENSP00000509810.1:p.Ala298Pro
|
|
ENST00000355740.7:c.*137G>C
|
ENSP00000347979.3:n.*137G>C
|
|
ENST00000612663.5:c.*213G>C
|
ENSP00000477997.3:n.*213G>C
|
|
ENST00000640140.1:n.983G>C
|
|
|
ENST00000640250.1:n.310G>C
|
|
|
ENST00000640681.1:n.932G>C
|
|
|
ENST00000652046.1:c.811G>C
MANE Select
|
ENSP00000498466.1:p.Ala271Pro
|
|
ENST00000352159.8:c.*128G>C
|
ENSP00000345601.4:n.*128G>C
|
|
ENST00000355279.2:c.786G>C
|
ENSP00000347426.2:n.786G>C
|
|
ENST00000355740.6:c.811G>C
|
ENSP00000347979.2:p.Ala271Pro
|
|
ENST00000357339.6:c.748G>C
|
ENSP00000349896.2:p.Ala250Pro
|
|
ENST00000479522.5:c.*240G>C
|
ENSP00000424113.1:n.*240G>C
|
|
ENST00000484444.5:c.*252G>C
|
ENSP00000420975.1:n.*252G>C
|
|
ENST00000488877.5:c.*252G>C
|
ENSP00000425159.1:n.*252G>C
|
|
ENST00000492756.5:c.639G>C
|
ENSP00000422453.1:n.639G>C
|
|
ENST00000494410.5:c.*169G>C
|
ENSP00000423755.1:n.*169G>C
|
|
ENST00000612663.4:c.*158G>C
|
ENSP00000477997.2:n.*158G>C
|
|
NM_000043.4:c.811G>C , LRG_134t1:c.811G>C
|
NP_000034.1:p.Ala271Pro
|
|
NM_152871.2:c.748G>C
|
NP_690610.1:p.Ala250Pro
|
|
NM_152872.2:c.*123G>C
|
NP_690611.1:n.*123G>C
|
|
NR_028033.2:n.985G>C
|
|
|
NR_028034.2:n.847G>C
|
|
|
NR_028035.2:n.910G>C
|
|
|
NR_028036.2:n.1048G>C
|
|
|
XM_006717819.2:c.892G>C
|
XP_006717882.1:p.Ala298Pro
|
|
XM_011539764.1:c.973G>C
|
XP_011538066.1:p.Ala325Pro
|
|
XM_011539765.1:c.910G>C
|
XP_011538067.1:p.Ala304Pro
|
|
XM_011539766.1:c.892G>C
|
XP_011538068.1:p.Ala298Pro
|
|
XM_011539767.1:c.856G>C
|
XP_011538069.1:p.Ala286Pro
|
|
XR_945732.1:n.879G>C
|
|
|
XR_945733.1:n.816G>C
|
|
|
NM_000043.5:c.811G>C
|
NP_000034.1:p.Ala271Pro
|
|
NM_001320619.1:c.*134G>C
|
NP_001307548.1:n.*134G>C
|
|
NM_152871.3:c.748G>C
|
NP_690610.1:p.Ala250Pro
|
|
NM_152872.3:c.*123G>C
|
NP_690611.1:n.*123G>C
|
|
NR_028033.3:n.957G>C
|
|
|
NR_028034.3:n.819G>C
|
|
|
NR_028035.3:n.882G>C
|
|
|
NR_028036.3:n.1020G>C
|
|
|
NR_135313.1:n.937G>C
|
|
|
NR_135314.1:n.1120G>C
|
|
|
NR_135315.1:n.873G>C
|
|
|
XM_006717819.3:c.892G>C
|
XP_006717882.1:p.Ala298Pro
|
|
XM_011539764.2:c.973G>C
|
XP_011538066.1:p.Ala325Pro
|
|
XM_011539765.2:c.910G>C
|
XP_011538067.1:p.Ala304Pro
|
|
XM_011539766.2:c.892G>C
|
XP_011538068.1:p.Ala298Pro
|
|
XM_011539767.3:c.856G>C
|
XP_011538069.1:p.Ala286Pro
|
|
XR_945732.3:n.879G>C
|
|
|
XR_945733.2:n.816G>C
|
|
|
NM_000043.6:c.811G>C
MANE Select
|
NP_000034.1:p.Ala271Pro
|
|
NM_001320619.2:c.*134G>C
|
NP_001307548.1:n.*134G>C
|
|
NM_152871.4:c.748G>C
|
NP_690610.1:p.Ala250Pro
|
|
NM_152872.4:c.*123G>C
|
NP_690611.1:n.*123G>C
|
|
NR_028033.4:n.718G>C
|
|
|
NR_028034.4:n.580G>C
|
|
|
NR_028035.4:n.643G>C
|
|
|
NR_028036.4:n.781G>C
|
|
|
NR_135313.2:n.698G>C
|
|
|
NR_135314.2:n.977G>C
|
|
|
NR_135315.2:n.730G>C
|
|
|