ENST00000313771.10:n.1035A>C
|
|
|
ENST00000355740.8:c.*49A>C
|
ENSP00000347979.3:n.*49A>C
|
|
ENST00000357339.7:c.663A>C
|
ENSP00000349896.2:p.Leu221=
|
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ENST00000371857.8:n.2271A>C
|
|
|
ENST00000460510.6:c.9A>C
|
ENSP00000512812.1:p.Leu3=
|
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ENST00000466081.6:n.2375A>C
|
|
|
ENST00000477270.6:c.771A>C
|
ENSP00000512813.1:p.Leu257=
|
|
ENST00000479522.6:c.*155A>C
|
ENSP00000424113.1:n.*155A>C
|
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ENST00000484444.6:c.*167A>C
|
ENSP00000420975.1:n.*167A>C
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ENST00000488877.6:c.617A>C
|
ENSP00000425159.1:n.617A>C
|
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ENST00000492756.7:c.*155A>C
|
ENSP00000422453.1:n.*155A>C
|
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ENST00000494799.6:c.9A>C
|
ENSP00000512834.1:p.Leu3=
|
|
ENST00000562983.3:c.9A>C
|
ENSP00000512845.1:p.Leu3=
|
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ENST00000612663.6:c.*128A>C
|
ENSP00000477997.3:n.*128A>C
|
|
ENST00000640140.2:n.871A>C
|
|
|
ENST00000640250.2:n.225A>C
|
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ENST00000640681.2:n.830A>C
|
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ENST00000696723.1:n.4359A>C
|
|
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ENST00000696741.1:n.2364A>C
|
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ENST00000696742.1:n.2091A>C
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ENST00000696743.1:n.3494A>C
|
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ENST00000696744.1:n.765A>C
|
|
|
ENST00000696767.1:n.1060A>C
|
|
|
ENST00000696768.1:c.*49A>C
|
ENSP00000512859.1:n.*49A>C
|
|
ENST00000696769.1:n.2415A>C
|
|
|
ENST00000696771.1:c.9A>C
|
ENSP00000512860.1:p.Leu3=
|
|
ENST00000696772.1:n.2329A>C
|
|
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ENST00000696773.1:n.2068A>C
|
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ENST00000696774.1:n.5836A>C
|
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ENST00000696776.1:c.819A>C
|
ENSP00000512861.1:p.Leu273=
|
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ENST00000696777.1:n.2134A>C
|
|
|
ENST00000696778.1:n.1162A>C
|
|
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ENST00000696779.1:c.333A>C
|
ENSP00000512862.1:p.Leu111=
|
|
ENST00000696780.1:c.756A>C
|
ENSP00000512863.1:p.Leu252=
|
|
ENST00000696781.1:c.471A>C
|
ENSP00000512864.1:p.Leu157=
|
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ENST00000696782.1:c.*128A>C
|
ENSP00000512865.1:n.*128A>C
|
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ENST00000696783.1:n.2594A>C
|
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ENST00000696992.1:n.1843A>C
|
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ENST00000696995.1:n.4255A>C
|
|
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ENST00000696996.1:n.2168A>C
|
|
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ENST00000696997.1:c.*356A>C
|
ENSP00000513028.1:n.*356A>C
|
|
ENST00000696998.1:n.1980A>C
|
|
|
ENST00000696999.1:c.9A>C
|
ENSP00000513029.1:p.Leu3=
|
|
ENST00000697035.1:c.*59A>C
|
ENSP00000513059.1:n.*59A>C
|
|
ENST00000697036.1:c.*142A>C
|
ENSP00000513060.1:n.*142A>C
|
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ENST00000697037.1:n.761A>C
|
|
|
ENST00000697093.1:n.2962A>C
|
|
|
ENST00000697094.1:n.3309A>C
|
|
|
ENST00000697095.1:c.*1927A>C
|
ENSP00000513104.1:n.*1927A>C
|
|
ENST00000697096.1:n.1859A>C
|
|
|
ENST00000697097.1:c.9A>C
|
ENSP00000513105.1:p.Leu3=
|
|
ENST00000562983.2:n.912A>C
|
|
|
ENST00000690268.1:c.807A>C
|
ENSP00000509810.1:p.Leu269=
|
|
ENST00000355740.7:c.*52A>C
|
ENSP00000347979.3:n.*52A>C
|
|
ENST00000612663.5:c.*128A>C
|
ENSP00000477997.3:n.*128A>C
|
|
ENST00000640140.1:n.898A>C
|
|
|
ENST00000640250.1:n.225A>C
|
|
|
ENST00000640681.1:n.847A>C
|
|
|
ENST00000652046.1:c.726A>C
MANE Select
|
ENSP00000498466.1:p.Leu242=
|
|
ENST00000313771.9:n.1035A>C
|
|
|
ENST00000352159.8:c.*43A>C
|
ENSP00000345601.4:n.*43A>C
|
|
ENST00000355279.2:c.701A>C
|
ENSP00000347426.2:n.701A>C
|
|
ENST00000355740.6:c.726A>C
|
ENSP00000347979.2:p.Leu242=
|
|
ENST00000357339.6:c.663A>C
|
ENSP00000349896.2:p.Leu221=
|
|
ENST00000479522.5:c.*155A>C
|
ENSP00000424113.1:n.*155A>C
|
|
ENST00000484444.5:c.*167A>C
|
ENSP00000420975.1:n.*167A>C
|
|
ENST00000488877.5:c.*167A>C
|
ENSP00000425159.1:n.*167A>C
|
|
ENST00000492756.5:c.554A>C
|
ENSP00000422453.1:n.554A>C
|
|
ENST00000494410.5:c.*84A>C
|
ENSP00000423755.1:n.*84A>C
|
|
ENST00000494799.5:n.633A>C
|
|
|
ENST00000612663.4:c.*73A>C
|
ENSP00000477997.2:n.*73A>C
|
|
ENST00000615406.4:c.726A>C
|
ENSP00000484575.1:p.Leu242=
|
|
ENST00000626542.2:c.724A>C
|
ENSP00000485876.1:p.Lys242Gln
|
|
NM_000043.4:c.726A>C , LRG_134t1:c.726A>C
|
NP_000034.1:p.Leu242=
|
|
NM_152871.2:c.663A>C
|
NP_690610.1:p.Leu221=
|
|
NM_152872.2:c.*38A>C
|
NP_690611.1:n.*38A>C
|
|
NR_028033.2:n.900A>C
|
|
|
NR_028034.2:n.762A>C
|
|
|
NR_028035.2:n.825A>C
|
|
|
NR_028036.2:n.963A>C
|
|
|
XM_006717819.2:c.807A>C
|
XP_006717882.1:p.Leu269=
|
|
XM_011539764.1:c.888A>C
|
XP_011538066.1:p.Leu296=
|
|
XM_011539765.1:c.825A>C
|
XP_011538067.1:p.Leu275=
|
|
XM_011539766.1:c.807A>C
|
XP_011538068.1:p.Leu269=
|
|
XM_011539767.1:c.771A>C
|
XP_011538069.1:p.Leu257=
|
|
XR_945732.1:n.794A>C
|
|
|
XR_945733.1:n.731A>C
|
|
|
NM_000043.5:c.726A>C
|
NP_000034.1:p.Leu242=
|
|
NM_001320619.1:c.*49A>C
|
NP_001307548.1:n.*49A>C
|
|
NM_152871.3:c.663A>C
|
NP_690610.1:p.Leu221=
|
|
NM_152872.3:c.*38A>C
|
NP_690611.1:n.*38A>C
|
|
NR_028033.3:n.872A>C
|
|
|
NR_028034.3:n.734A>C
|
|
|
NR_028035.3:n.797A>C
|
|
|
NR_028036.3:n.935A>C
|
|
|
NR_135313.1:n.852A>C
|
|
|
NR_135314.1:n.1035A>C
|
|
|
NR_135315.1:n.788A>C
|
|
|
XM_006717819.3:c.807A>C
|
XP_006717882.1:p.Leu269=
|
|
XM_011539764.2:c.888A>C
|
XP_011538066.1:p.Leu296=
|
|
XM_011539765.2:c.825A>C
|
XP_011538067.1:p.Leu275=
|
|
XM_011539766.2:c.807A>C
|
XP_011538068.1:p.Leu269=
|
|
XM_011539767.3:c.771A>C
|
XP_011538069.1:p.Leu257=
|
|
XR_945732.3:n.794A>C
|
|
|
XR_945733.2:n.731A>C
|
|
|
NM_000043.6:c.726A>C
MANE Select
|
NP_000034.1:p.Leu242=
|
|
NM_001320619.2:c.*49A>C
|
NP_001307548.1:n.*49A>C
|
|
NM_152871.4:c.663A>C
|
NP_690610.1:p.Leu221=
|
|
NM_152872.4:c.*38A>C
|
NP_690611.1:n.*38A>C
|
|
NR_028033.4:n.633A>C
|
|
|
NR_028034.4:n.495A>C
|
|
|
NR_028035.4:n.558A>C
|
|
|
NR_028036.4:n.696A>C
|
|
|
NR_135313.2:n.613A>C
|
|
|
NR_135314.2:n.892A>C
|
|
|
NR_135315.2:n.645A>C
|
|
|