|
NM_000043.6:c.538C>T
MANE Select
|
NP_000034.1:p.Leu180Phe
|
|
ENST00000652046.1:c.538C>T
MANE Select
|
ENSP00000498466.1:p.Leu180Phe
|
|
NM_000043.4:c.538C>T , LRG_134t1:c.538C>T
|
NP_000034.1:p.Leu180Phe
|
|
NM_000043.5:c.538C>T
|
NP_000034.1:p.Leu180Phe
|
|
NM_001320619.1:c.538C>T
|
NP_001307548.1:p.Leu180Phe
|
|
NM_001320619.2:c.538C>T
|
NP_001307548.1:p.Leu180Phe
|
|
NM_152871.2:c.505+185C>T
|
NP_690610.1:n.505+185C>T
|
|
NM_152871.3:c.505+185C>T
|
NP_690610.1:n.505+185C>T
|
|
NM_152871.4:c.505+185C>T
|
NP_690610.1:n.505+185C>T
|
|
NM_152872.2:c.538C>T
|
NP_690611.1:p.Leu180Phe
|
|
NM_152872.3:c.538C>T
|
NP_690611.1:p.Leu180Phe
|
|
NM_152872.4:c.538C>T
|
NP_690611.1:p.Leu180Phe
|
|
NR_028033.2:n.742+185C>T
|
|
|
NR_028033.3:n.714+185C>T
|
|
|
NR_028033.4:n.475+185C>T
|
|
|
NR_028034.2:n.604+185C>T
|
|
|
NR_028034.3:n.576+185C>T
|
|
|
NR_028034.4:n.337+185C>T
|
|
|
NR_028035.2:n.637C>T
|
|
|
NR_028035.3:n.609C>T
|
|
|
NR_028035.4:n.370C>T
|
|
|
NR_028036.2:n.775C>T
|
|
|
NR_028036.3:n.747C>T
|
|
|
NR_028036.4:n.508C>T
|
|
|
NR_135313.1:n.747C>T
|
|
|
NR_135313.2:n.508C>T
|
|
|
NR_135314.1:n.847C>T
|
|
|
NR_135314.2:n.704C>T
|
|
|
NR_135315.1:n.600C>T
|
|
|
NR_135315.2:n.457C>T
|
|
|
ENST00000313771.10:n.847C>T
|
|
|
ENST00000313771.9:n.847C>T
|
|
|
ENST00000352159.8:c.538C>T
|
ENSP00000345601.4:p.Leu180Phe
|
|
ENST00000355279.2:c.538C>T
|
ENSP00000347426.2:p.Leu180Phe
|
|
ENST00000355740.6:c.538C>T
|
ENSP00000347979.2:p.Leu180Phe
|
|
ENST00000355740.7:c.538C>T
|
ENSP00000347979.3:p.Leu180Phe
|
|
ENST00000355740.8:c.538C>T
|
ENSP00000347979.3:p.Leu180Phe
|
|
ENST00000357339.6:c.505+185C>T
|
ENSP00000349896.2:n.505+185C>T
|
|
ENST00000357339.7:c.505+185C>T
|
ENSP00000349896.2:n.505+185C>T
|
|
ENST00000371857.7:n.856C>T
|
|
|
ENST00000371857.8:n.900C>T
|
|
|
ENST00000460510.6:c.-180C>T
|
ENSP00000512812.1:n.-180C>T
|
|
ENST00000466081.6:n.750C>T
|
|
|
ENST00000477270.5:n.701C>T
|
|
|
ENST00000477270.6:c.583C>T
|
ENSP00000512813.1:p.Leu195Phe
|
|
ENST00000479522.5:c.258+185C>T
|
ENSP00000424113.1:n.258+185C>T
|
|
ENST00000479522.6:c.258+185C>T
|
ENSP00000424113.1:n.258+185C>T
|
|
ENST00000484444.5:c.291C>T
|
ENSP00000420975.1:p.Phe97=
|
|
ENST00000484444.6:c.291C>T
|
ENSP00000420975.1:p.Phe97=
|
|
ENST00000487314.1:n.687C>T
|
|
|
ENST00000488877.5:c.429C>T
|
ENSP00000425159.1:p.Phe143=
|
|
ENST00000488877.6:c.429C>T
|
ENSP00000425159.1:p.Phe143=
|
|
ENST00000492756.5:c.396+185C>T
|
ENSP00000422453.1:n.396+185C>T
|
|
ENST00000492756.7:c.396+185C>T
|
ENSP00000422453.1:n.396+185C>T
|
|
ENST00000494410.5:c.429C>T
|
ENSP00000423755.1:p.Phe143=
|
|
ENST00000494799.5:n.445C>T
|
|
|
ENST00000494799.6:c.-180C>T
|
ENSP00000512834.1:n.-180C>T
|
|
ENST00000562983.2:n.724C>T
|
|
|
ENST00000562983.3:c.-180C>T
|
ENSP00000512845.1:n.-180C>T
|
|
ENST00000612663.4:c.538C>T
|
ENSP00000477997.2:p.Leu180Phe
|
|
ENST00000612663.5:c.538C>T
|
ENSP00000477997.3:p.Leu180Phe
|
|
ENST00000612663.6:c.538C>T
|
ENSP00000477997.3:p.Leu180Phe
|
|
ENST00000615406.4:c.538C>T
|
ENSP00000484575.1:p.Leu180Phe
|
|
ENST00000626542.2:c.538C>T
|
ENSP00000485876.1:p.Leu180Phe
|
|
ENST00000640140.1:n.710C>T
|
|
|
ENST00000640140.2:n.683C>T
|
|
|
ENST00000640681.1:n.659C>T
|
|
|
ENST00000640681.2:n.642C>T
|
|
|
ENST00000690268.1:c.619C>T
|
ENSP00000509810.1:p.Leu207Phe
|
|
ENST00000696723.1:n.4171C>T
|
|
|
ENST00000696741.1:n.993C>T
|
|
|
ENST00000696742.1:n.720C>T
|
|
|
ENST00000696743.1:n.862C>T
|
|
|
ENST00000696744.1:n.577C>T
|
|
|
ENST00000696767.1:n.872C>T
|
|
|
ENST00000696768.1:c.505+185C>T
|
ENSP00000512859.1:n.505+185C>T
|
|
ENST00000696769.1:n.1044C>T
|
|
|
ENST00000696770.1:n.3465C>T
|
|
|
ENST00000696771.1:c.-150+185C>T
|
ENSP00000512860.1:n.-150+185C>T
|
|
ENST00000696772.1:n.704C>T
|
|
|
ENST00000696773.1:n.697C>T
|
|
|
ENST00000696774.1:n.2453C>T
|
|
|
ENST00000696776.1:c.631C>T
|
ENSP00000512861.1:p.Leu211Phe
|
|
ENST00000696777.1:n.763C>T
|
|
|
ENST00000696778.1:n.720C>T
|
|
|
ENST00000696779.1:c.258+185C>T
|
ENSP00000512862.1:n.258+185C>T
|
|
ENST00000696780.1:c.598+185C>T
|
ENSP00000512863.1:n.598+185C>T
|
|
ENST00000696781.1:c.396+185C>T
|
ENSP00000512864.1:n.396+185C>T
|
|
ENST00000696782.1:c.505+185C>T
|
ENSP00000512865.1:n.505+185C>T
|
|
ENST00000696783.1:n.1223C>T
|
|
|
ENST00000696992.1:n.1655C>T
|
|
|
ENST00000696995.1:n.872C>T
|
|
|
ENST00000696996.1:n.719C>T
|
|
|
ENST00000696997.1:c.*168C>T
|
ENSP00000513028.1:n.*168C>T
|
|
ENST00000696998.1:n.609C>T
|
|
|
ENST00000696999.1:c.-150+185C>T
|
ENSP00000513029.1:n.-150+185C>T
|
|
ENST00000697035.1:c.538C>T
|
ENSP00000513059.1:p.Leu180Phe
|
|
ENST00000697036.1:c.429C>T
|
ENSP00000513060.1:p.Phe143=
|
|
ENST00000697037.1:n.573C>T
|
|
|
ENST00000697093.1:n.762C>T
|
|
|
ENST00000697094.1:n.677C>T
|
|
|
ENST00000697095.1:c.*1739C>T
|
ENSP00000513104.1:n.*1739C>T
|
|
ENST00000697096.1:n.746C>T
|
|
|
ENST00000697097.1:c.-180C>T
|
ENSP00000513105.1:n.-180C>T
|
|
XM_006717819.2:c.619C>T
|
XP_006717882.1:p.Leu207Phe
|
|
XM_006717819.3:c.619C>T
|
XP_006717882.1:p.Leu207Phe
|
|
XM_011539764.1:c.700C>T
|
XP_011538066.1:p.Leu234Phe
|
|
XM_011539764.2:c.700C>T
|
XP_011538066.1:p.Leu234Phe
|
|
XM_011539765.1:c.667+185C>T
|
XP_011538067.1:n.667+185C>T
|
|
XM_011539765.2:c.667+185C>T
|
XP_011538067.1:n.667+185C>T
|
|
XM_011539766.1:c.619C>T
|
XP_011538068.1:p.Leu207Phe
|
|
XM_011539766.2:c.619C>T
|
XP_011538068.1:p.Leu207Phe
|
|
XM_011539767.1:c.583C>T
|
XP_011538069.1:p.Leu195Phe
|
|
XM_011539767.3:c.583C>T
|
XP_011538069.1:p.Leu195Phe
|
|
XR_945732.1:n.606C>T
|
|
|
XR_945732.3:n.606C>T
|
|
|
XR_945733.1:n.573+185C>T
|
|
|
XR_945733.2:n.573+185C>T
|
|
