ENST00000313771.10:n.988G>C
|
|
|
ENST00000355740.8:c.*2G>C
|
ENSP00000347979.3:n.*2G>C
|
|
ENST00000357339.7:c.616G>C
|
ENSP00000349896.2:p.Val206Leu
|
|
ENST00000371857.8:n.2224G>C
|
|
|
ENST00000460510.6:c.-39G>C
|
ENSP00000512812.1:n.-39G>C
|
|
ENST00000466081.6:n.2328G>C
|
|
|
ENST00000477270.6:c.724G>C
|
ENSP00000512813.1:p.Val242Leu
|
|
ENST00000479522.6:c.*108G>C
|
ENSP00000424113.1:n.*108G>C
|
|
ENST00000484444.6:c.*120G>C
|
ENSP00000420975.1:n.*120G>C
|
|
ENST00000488877.6:c.570G>C
|
ENSP00000425159.1:n.570G>C
|
|
ENST00000492756.7:c.*108G>C
|
ENSP00000422453.1:n.*108G>C
|
|
ENST00000494799.6:c.-39G>C
|
ENSP00000512834.1:n.-39G>C
|
|
ENST00000562983.3:c.-39G>C
|
ENSP00000512845.1:n.-39G>C
|
|
ENST00000612663.6:c.*81G>C
|
ENSP00000477997.3:n.*81G>C
|
|
ENST00000640140.2:n.824G>C
|
|
|
ENST00000640250.2:n.178G>C
|
|
|
ENST00000640681.2:n.783G>C
|
|
|
ENST00000696723.1:n.4312G>C
|
|
|
ENST00000696741.1:n.2317G>C
|
|
|
ENST00000696742.1:n.2044G>C
|
|
|
ENST00000696743.1:n.3447G>C
|
|
|
ENST00000696744.1:n.718G>C
|
|
|
ENST00000696767.1:n.1013G>C
|
|
|
ENST00000696768.1:c.*2G>C
|
ENSP00000512859.1:n.*2G>C
|
|
ENST00000696769.1:n.2368G>C
|
|
|
ENST00000696771.1:c.-39G>C
|
ENSP00000512860.1:n.-39G>C
|
|
ENST00000696772.1:n.2282G>C
|
|
|
ENST00000696773.1:n.2021G>C
|
|
|
ENST00000696774.1:n.5789G>C
|
|
|
ENST00000696776.1:c.772G>C
|
ENSP00000512861.1:p.Val258Leu
|
|
ENST00000696777.1:n.2087G>C
|
|
|
ENST00000696778.1:n.1115G>C
|
|
|
ENST00000696779.1:c.286G>C
|
ENSP00000512862.1:p.Val96Leu
|
|
ENST00000696780.1:c.709G>C
|
ENSP00000512863.1:p.Val237Leu
|
|
ENST00000696781.1:c.424G>C
|
ENSP00000512864.1:p.Val142Leu
|
|
ENST00000696782.1:c.*81G>C
|
ENSP00000512865.1:n.*81G>C
|
|
ENST00000696783.1:n.2547G>C
|
|
|
ENST00000696992.1:n.1796G>C
|
|
|
ENST00000696995.1:n.4208G>C
|
|
|
ENST00000696996.1:n.2121G>C
|
|
|
ENST00000696997.1:c.*309G>C
|
ENSP00000513028.1:n.*309G>C
|
|
ENST00000696998.1:n.1933G>C
|
|
|
ENST00000696999.1:c.-39G>C
|
ENSP00000513029.1:n.-39G>C
|
|
ENST00000697035.1:c.*12G>C
|
ENSP00000513059.1:n.*12G>C
|
|
ENST00000697036.1:c.*95G>C
|
ENSP00000513060.1:n.*95G>C
|
|
ENST00000697037.1:n.714G>C
|
|
|
ENST00000697093.1:n.2915G>C
|
|
|
ENST00000697094.1:n.3262G>C
|
|
|
ENST00000697095.1:c.*1880G>C
|
ENSP00000513104.1:n.*1880G>C
|
|
ENST00000697096.1:n.1812G>C
|
|
|
ENST00000697097.1:c.-39G>C
|
ENSP00000513105.1:n.-39G>C
|
|
ENST00000562983.2:n.865G>C
|
|
|
ENST00000690268.1:c.760G>C
|
ENSP00000509810.1:p.Val254Leu
|
|
ENST00000355740.7:c.*5G>C
|
ENSP00000347979.3:n.*5G>C
|
|
ENST00000612663.5:c.*81G>C
|
ENSP00000477997.3:n.*81G>C
|
|
ENST00000640140.1:n.851G>C
|
|
|
ENST00000640250.1:n.178G>C
|
|
|
ENST00000640681.1:n.800G>C
|
|
|
ENST00000652046.1:c.679G>C
MANE Select
|
ENSP00000498466.1:p.Val227Leu
|
|
ENST00000313771.9:n.988G>C
|
|
|
ENST00000352159.8:c.698G>C
|
ENSP00000345601.4:p.Cys233Ser
|
|
ENST00000355279.2:c.654G>C
|
ENSP00000347426.2:p.Met218Ile
|
|
ENST00000355740.6:c.679G>C
|
ENSP00000347979.2:p.Val227Leu
|
|
ENST00000357339.6:c.616G>C
|
ENSP00000349896.2:p.Val206Leu
|
|
ENST00000479522.5:c.*108G>C
|
ENSP00000424113.1:n.*108G>C
|
|
ENST00000484444.5:c.*120G>C
|
ENSP00000420975.1:n.*120G>C
|
|
ENST00000488877.5:c.*120G>C
|
ENSP00000425159.1:n.*120G>C
|
|
ENST00000492756.5:c.507G>C
|
ENSP00000422453.1:n.507G>C
|
|
ENST00000494410.5:c.*37G>C
|
ENSP00000423755.1:n.*37G>C
|
|
ENST00000494799.5:n.586G>C
|
|
|
ENST00000612663.4:c.*26G>C
|
ENSP00000477997.2:n.*26G>C
|
|
ENST00000615406.4:c.679G>C
|
ENSP00000484575.1:p.Val227Leu
|
|
ENST00000626542.2:c.679G>C
|
ENSP00000485876.1:p.Val227Leu
|
|
NM_000043.4:c.679G>C , LRG_134t1:c.679G>C
|
NP_000034.1:p.Val227Leu
|
|
NM_152871.2:c.616G>C
|
NP_690610.1:p.Val206Leu
|
|
NM_152872.2:c.654G>C
|
NP_690611.1:p.Met218Ile
|
|
NR_028033.2:n.853G>C
|
|
|
NR_028034.2:n.715G>C
|
|
|
NR_028035.2:n.778G>C
|
|
|
NR_028036.2:n.916G>C
|
|
|
XM_006717819.2:c.760G>C
|
XP_006717882.1:p.Val254Leu
|
|
XM_011539764.1:c.841G>C
|
XP_011538066.1:p.Val281Leu
|
|
XM_011539765.1:c.778G>C
|
XP_011538067.1:p.Val260Leu
|
|
XM_011539766.1:c.760G>C
|
XP_011538068.1:p.Val254Leu
|
|
XM_011539767.1:c.724G>C
|
XP_011538069.1:p.Val242Leu
|
|
XR_945732.1:n.747G>C
|
|
|
XR_945733.1:n.684G>C
|
|
|
NM_000043.5:c.679G>C
|
NP_000034.1:p.Val227Leu
|
|
NM_001320619.1:c.*2G>C
|
NP_001307548.1:n.*2G>C
|
|
NM_152871.3:c.616G>C
|
NP_690610.1:p.Val206Leu
|
|
NM_152872.3:c.654G>C
|
NP_690611.1:p.Met218Ile
|
|
NR_028033.3:n.825G>C
|
|
|
NR_028034.3:n.687G>C
|
|
|
NR_028035.3:n.750G>C
|
|
|
NR_028036.3:n.888G>C
|
|
|
NR_135313.1:n.805G>C
|
|
|
NR_135314.1:n.988G>C
|
|
|
NR_135315.1:n.741G>C
|
|
|
XM_006717819.3:c.760G>C
|
XP_006717882.1:p.Val254Leu
|
|
XM_011539764.2:c.841G>C
|
XP_011538066.1:p.Val281Leu
|
|
XM_011539765.2:c.778G>C
|
XP_011538067.1:p.Val260Leu
|
|
XM_011539766.2:c.760G>C
|
XP_011538068.1:p.Val254Leu
|
|
XM_011539767.3:c.724G>C
|
XP_011538069.1:p.Val242Leu
|
|
XR_945732.3:n.747G>C
|
|
|
XR_945733.2:n.684G>C
|
|
|
NM_000043.6:c.679G>C
MANE Select
|
NP_000034.1:p.Val227Leu
|
|
NM_001320619.2:c.*2G>C
|
NP_001307548.1:n.*2G>C
|
|
NM_152871.4:c.616G>C
|
NP_690610.1:p.Val206Leu
|
|
NM_152872.4:c.654G>C
|
NP_690611.1:p.Met218Ile
|
|
NR_028033.4:n.586G>C
|
|
|
NR_028034.4:n.448G>C
|
|
|
NR_028035.4:n.511G>C
|
|
|
NR_028036.4:n.649G>C
|
|
|
NR_135313.2:n.566G>C
|
|
|
NR_135314.2:n.845G>C
|
|
|
NR_135315.2:n.598G>C
|
|
|