|
NM_015846.4:c.1237C>T
MANE Select
|
NP_056671.2:p.Arg413Ter
|
|
ENST00000269468.10:c.1237C>T
MANE Select
|
ENSP00000269468.5:p.Arg413Ter
|
|
NM_001204136.1:c.1237C>T
|
NP_001191065.1:p.Arg413Ter
|
|
NM_001204136.2:c.1237C>T
|
NP_001191065.1:p.Arg413Ter
|
|
NM_001204137.1:c.1312C>T
|
NP_001191066.1:p.Arg438Ter
|
|
NM_001204137.2:c.1312C>T
|
NP_001191066.1:p.Arg438Ter
|
|
NM_001204138.1:c.1309C>T
|
NP_001191067.1:p.Arg437Ter
|
|
NM_001204138.2:c.1309C>T
|
NP_001191067.1:p.Arg437Ter
|
|
NM_001204139.1:c.1237C>T
|
NP_001191068.1:p.Arg413Ter
|
|
NM_001204139.2:c.1237C>T
|
NP_001191068.1:p.Arg413Ter
|
|
NM_001204140.1:c.1144C>T
|
NP_001191069.1:p.Arg382Ter
|
|
NM_001204140.2:c.1144C>T
|
NP_001191069.1:p.Arg382Ter
|
|
NM_001204141.1:c.1087C>T
|
NP_001191070.1:p.Arg363Ter
|
|
NM_001204141.2:c.1087C>T
|
NP_001191070.1:p.Arg363Ter
|
|
NM_001204142.1:c.1237C>T
|
NP_001191071.1:p.Arg413Ter
|
|
NM_001204142.2:c.1237C>T
|
NP_001191071.1:p.Arg413Ter
|
|
NM_001204143.1:c.1069C>T
|
NP_001191072.1:p.Arg357Ter
|
|
NM_001204143.2:c.1069C>T
|
NP_001191072.1:p.Arg357Ter
|
|
NM_001204151.1:c.1168C>T
|
NP_001191080.1:p.Arg390Ter
|
|
NM_001204151.2:c.1168C>T
|
NP_001191080.1:p.Arg390Ter
|
|
NM_001204151.3:c.1168C>T
|
NP_001191080.1:p.Arg390Ter
|
|
NM_001323942.1:c.1312C>T
|
NP_001310871.1:p.Arg438Ter
|
|
NM_001323942.2:c.1312C>T
|
NP_001310871.1:p.Arg438Ter
|
|
NM_001323947.1:c.1312C>T
|
NP_001310876.1:p.Arg438Ter
|
|
NM_001323947.2:c.1312C>T
|
NP_001310876.1:p.Arg438Ter
|
|
NM_001323949.1:c.805C>T
|
NP_001310878.1:p.Arg269Ter
|
|
NM_001323949.2:c.805C>T
|
NP_001310878.1:p.Arg269Ter
|
|
NM_001323950.1:c.1234C>T
|
NP_001310879.1:p.Arg412Ter
|
|
NM_001323950.2:c.1234C>T
|
NP_001310879.1:p.Arg412Ter
|
|
NM_001323951.1:c.1237C>T
|
NP_001310880.1:p.Arg413Ter
|
|
NM_001323951.2:c.1237C>T
|
NP_001310880.1:p.Arg413Ter
|
|
NM_001323952.1:c.994C>T
|
NP_001310881.1:p.Arg332Ter
|
|
NM_001323952.2:c.994C>T
|
NP_001310881.1:p.Arg332Ter
|
|
NM_001323953.1:c.661C>T
|
NP_001310882.1:p.Arg221Ter
|
|
NM_001323953.2:c.661C>T
|
NP_001310882.1:p.Arg221Ter
|
|
NM_001323954.1:c.1000C>T
|
NP_001310883.1:p.Arg334Ter
|
|
NM_001323954.2:c.1000C>T
|
NP_001310883.1:p.Arg334Ter
|
|
NM_001388138.1:c.1237C>T
|
NP_001375067.1:p.Arg413Ter
|
|
NM_001388139.1:c.1144C>T
|
NP_001375068.1:p.Arg382Ter
|
|
NM_001388140.1:c.1312C>T
|
NP_001375069.1:p.Arg438Ter
|
|
NM_001388141.1:c.1309C>T
|
NP_001375070.1:p.Arg437Ter
|
|
NM_001388142.1:c.1144C>T
|
NP_001375071.1:p.Arg382Ter
|
|
NM_001388143.1:c.1144C>T
|
NP_001375072.1:p.Arg382Ter
|
|
NM_001388144.1:c.1069C>T
|
NP_001375073.1:p.Arg357Ter
|
|
NM_001388145.1:c.1312C>T
|
NP_001375074.1:p.Arg438Ter
|
|
NM_001388146.1:c.1312C>T
|
NP_001375075.1:p.Arg438Ter
|
|
NM_001388147.1:c.1312C>T
|
NP_001375076.1:p.Arg438Ter
|
|
NM_001388148.1:c.1237C>T
|
NP_001375077.1:p.Arg413Ter
|
|
NM_001388149.1:c.1237C>T
|
NP_001375078.1:p.Arg413Ter
|
|
NM_001388150.1:c.1312C>T
|
NP_001375079.1:p.Arg438Ter
|
|
NM_001388151.1:c.1144C>T
|
NP_001375080.1:p.Arg382Ter
|
|
NM_001388152.1:c.1312C>T
|
NP_001375081.1:p.Arg438Ter
|
|
NM_001388153.1:c.1312C>T
|
NP_001375082.1:p.Arg438Ter
|
|
NM_001388154.1:c.1312C>T
|
NP_001375083.1:p.Arg438Ter
|
|
NM_001388155.1:c.1237C>T
|
NP_001375084.1:p.Arg413Ter
|
|
NM_001388156.1:c.1144C>T
|
NP_001375085.1:p.Arg382Ter
|
|
NM_001388157.1:c.1069C>T
|
NP_001375086.1:p.Arg357Ter
|
|
NM_001388158.1:c.1312C>T
|
NP_001375087.1:p.Arg438Ter
|
|
NM_001388159.1:c.1312C>T
|
NP_001375088.1:p.Arg438Ter
|
|
NM_001388160.1:c.1312C>T
|
NP_001375089.1:p.Arg438Ter
|
|
NM_001388161.1:c.1069C>T
|
NP_001375090.1:p.Arg357Ter
|
|
NM_001388162.1:c.1237C>T
|
NP_001375091.1:p.Arg413Ter
|
|
NM_001388163.1:c.1237C>T
|
NP_001375092.1:p.Arg413Ter
|
|
NM_001388164.1:c.1144C>T
|
NP_001375093.1:p.Arg382Ter
|
|
NM_001388165.1:c.1069C>T
|
NP_001375094.1:p.Arg357Ter
|
|
NM_001388166.1:c.1144C>T
|
NP_001375095.1:p.Arg382Ter
|
|
NM_001388167.1:c.1069C>T
|
NP_001375096.1:p.Arg357Ter
|
|
NM_001399879.1:c.1243C>T
|
NP_001386808.1:p.Arg415Ter
|
|
NM_001399880.1:c.1390C>T
|
NP_001386809.1:p.Arg464Ter
|
|
NM_001399881.1:c.1234C>T
|
NP_001386810.1:p.Arg412Ter
|
|
NM_001399882.1:c.1237C>T
|
NP_001386811.1:p.Arg413Ter
|
|
NM_001399883.1:c.1309C>T
|
NP_001386812.1:p.Arg437Ter
|
|
NM_001399884.1:c.1234C>T
|
NP_001386813.1:p.Arg412Ter
|
|
NM_001399885.1:c.1234C>T
|
NP_001386814.1:p.Arg412Ter
|
|
NM_001399886.1:c.1312C>T
|
NP_001386815.1:p.Arg438Ter
|
|
NM_001399887.1:c.1162C>T
|
NP_001386816.1:p.Arg388Ter
|
|
NM_001399888.1:c.1309C>T
|
NP_001386817.1:p.Arg437Ter
|
|
NM_001399889.1:c.1312C>T
|
NP_001386818.1:p.Arg438Ter
|
|
NM_001399890.1:c.1237C>T
|
NP_001386819.1:p.Arg413Ter
|
|
NM_001399891.1:c.1243C>T
|
NP_001386820.1:p.Arg415Ter
|
|
NM_001399892.1:c.1234C>T
|
NP_001386821.1:p.Arg412Ter
|
|
NM_001399893.1:c.1168C>T
|
NP_001386822.1:p.Arg390Ter
|
|
NM_001399894.1:c.1243C>T
|
NP_001386823.1:p.Arg415Ter
|
|
NM_001399895.1:c.1312C>T
|
NP_001386824.1:p.Arg438Ter
|
|
NM_001399896.1:c.1243C>T
|
NP_001386825.1:p.Arg415Ter
|
|
NM_001399897.1:c.1237C>T
|
NP_001386826.1:p.Arg413Ter
|
|
NM_001399898.1:c.1237C>T
|
NP_001386827.1:p.Arg413Ter
|
|
NM_001399899.1:c.1234C>T
|
NP_001386828.1:p.Arg412Ter
|
|
NM_001399900.1:c.1234C>T
|
NP_001386829.1:p.Arg412Ter
|
|
NM_001399901.1:c.1234C>T
|
NP_001386830.1:p.Arg412Ter
|
|
NM_001399902.1:c.1234C>T
|
NP_001386831.1:p.Arg412Ter
|
|
NM_001399903.1:c.1237C>T
|
NP_001386832.1:p.Arg413Ter
|
|
NM_001399904.1:c.1066C>T
|
NP_001386833.1:p.Arg356Ter
|
|
NM_001399905.1:c.1237C>T
|
NP_001386834.1:p.Arg413Ter
|
|
NM_001399906.1:c.1237C>T
|
NP_001386835.1:p.Arg413Ter
|
|
NM_001399907.1:c.1069C>T
|
NP_001386836.1:p.Arg357Ter
|
|
NM_001399908.1:c.1168C>T
|
NP_001386837.1:p.Arg390Ter
|
|
NM_001399909.1:c.1162C>T
|
NP_001386838.1:p.Arg388Ter
|
|
NM_001399910.1:c.1237C>T
|
NP_001386839.1:p.Arg413Ter
|
|
NM_001399911.1:c.1237C>T
|
NP_001386840.1:p.Arg413Ter
|
|
NM_001399912.1:c.1237C>T
|
NP_001386841.1:p.Arg413Ter
|
|
NM_001399913.1:c.1237C>T
|
NP_001386842.1:p.Arg413Ter
|
|
NM_001399914.1:c.1237C>T
|
NP_001386843.1:p.Arg413Ter
|
|
NM_001399915.1:c.1234C>T
|
NP_001386844.1:p.Arg412Ter
|
|
NM_001399916.1:c.1078C>T
|
NP_001386845.1:p.Arg360Ter
|
|
NM_001399917.1:c.1165C>T
|
NP_001386846.1:p.Arg389Ter
|
|
NM_001399918.1:c.1069C>T
|
NP_001386847.1:p.Arg357Ter
|
|
NM_001399919.1:c.1075C>T
|
NP_001386848.1:p.Arg359Ter
|
|
NM_001399920.1:c.1168C>T
|
NP_001386849.1:p.Arg390Ter
|
|
NM_001399921.1:c.1237C>T
|
NP_001386850.1:p.Arg413Ter
|
|
NM_001399922.1:c.1165C>T
|
NP_001386851.1:p.Arg389Ter
|
|
NM_001399923.1:c.997C>T
|
NP_001386852.1:p.Arg333Ter
|
|
NM_001399924.1:c.994C>T
|
NP_001386853.1:p.Arg332Ter
|
|
NM_001399925.1:c.1144C>T
|
NP_001386854.1:p.Arg382Ter
|
|
NM_001399926.1:c.1168C>T
|
NP_001386855.1:p.Arg390Ter
|
|
NM_001399927.1:c.1243C>T
|
NP_001386856.1:p.Arg415Ter
|
|
NM_001399928.1:c.1069C>T
|
NP_001386857.1:p.Arg357Ter
|
|
NM_001399929.1:c.1165C>T
|
NP_001386858.1:p.Arg389Ter
|
|
NM_001399930.1:c.1162C>T
|
NP_001386859.1:p.Arg388Ter
|
|
NM_001399931.1:c.1075C>T
|
NP_001386860.1:p.Arg359Ter
|
|
NM_001399932.1:c.1243C>T
|
NP_001386861.1:p.Arg415Ter
|
|
NM_001399933.1:c.1144C>T
|
NP_001386862.1:p.Arg382Ter
|
|
NM_001399934.1:c.1237C>T
|
NP_001386863.1:p.Arg413Ter
|
|
NM_001399935.1:c.1000C>T
|
NP_001386864.1:p.Arg334Ter
|
|
NM_001399936.1:c.1000C>T
|
NP_001386865.1:p.Arg334Ter
|
|
NM_001399937.1:c.1069C>T
|
NP_001386866.1:p.Arg357Ter
|
|
NM_001399938.1:c.1090C>T
|
NP_001386867.1:p.Arg364Ter
|
|
NM_001399939.1:c.1075C>T
|
NP_001386868.1:p.Arg359Ter
|
|
NM_001399940.1:c.1075C>T
|
NP_001386869.1:p.Arg359Ter
|
|
NM_001399941.1:c.1069C>T
|
NP_001386870.1:p.Arg357Ter
|
|
NM_001399942.1:c.1069C>T
|
NP_001386871.1:p.Arg357Ter
|
|
NM_001399943.1:c.1066C>T
|
NP_001386872.1:p.Arg356Ter
|
|
NM_001399944.1:c.1090C>T
|
NP_001386873.1:p.Arg364Ter
|
|
NM_001399945.1:c.1069C>T
|
NP_001386874.1:p.Arg357Ter
|
|
NM_001399946.1:c.1075C>T
|
NP_001386875.1:p.Arg359Ter
|
|
NM_001399947.1:c.1069C>T
|
NP_001386876.1:p.Arg357Ter
|
|
NM_001399948.1:c.1069C>T
|
NP_001386877.1:p.Arg357Ter
|
|
NM_001399949.1:c.1075C>T
|
NP_001386878.1:p.Arg359Ter
|
|
NM_001399950.1:c.1000C>T
|
NP_001386879.1:p.Arg334Ter
|
|
NM_001399952.1:c.1069C>T
|
NP_001386881.1:p.Arg357Ter
|
|
NM_001399953.1:c.1000C>T
|
NP_001386882.1:p.Arg334Ter
|
|
NM_001399954.1:c.1000C>T
|
NP_001386883.1:p.Arg334Ter
|
|
NM_001399955.1:c.928C>T
|
NP_001386884.1:p.Arg310Ter
|
|
NM_001399956.1:c.1075C>T
|
NP_001386885.1:p.Arg359Ter
|
|
NM_001399957.1:c.1069C>T
|
NP_001386886.1:p.Arg357Ter
|
|
NM_001399958.1:c.1069C>T
|
NP_001386887.1:p.Arg357Ter
|
|
NM_001399959.1:c.805C>T
|
NP_001386888.1:p.Arg269Ter
|
|
NM_001399960.1:c.1000C>T
|
NP_001386889.1:p.Arg334Ter
|
|
NM_001399961.1:c.853C>T
|
NP_001386890.1:p.Arg285Ter
|
|
NM_001399962.1:c.730C>T
|
NP_001386891.1:p.Arg244Ter
|
|
NM_001399963.1:c.1000C>T
|
NP_001386892.1:p.Arg334Ter
|
|
NM_001399964.1:c.1000C>T
|
NP_001386893.1:p.Arg334Ter
|
|
NM_001399965.1:c.802C>T
|
NP_001386894.1:p.Arg268Ter
|
|
NM_001399966.1:c.730C>T
|
NP_001386895.1:p.Arg244Ter
|
|
NM_001399967.1:c.730C>T
|
NP_001386896.1:p.Arg244Ter
|
|
NM_001399968.1:c.730C>T
|
NP_001386897.1:p.Arg244Ter
|
|
NM_001399970.1:c.730C>T
|
NP_001386899.1:p.Arg244Ter
|
|
NM_001399971.1:c.562C>T
|
NP_001386900.1:p.Arg188Ter
|
|
NM_001399973.1:c.493C>T
|
NP_001386902.1:p.Arg165Ter
|
|
NM_001399974.1:c.562C>T
|
NP_001386903.1:p.Arg188Ter
|
|
NM_001399975.1:c.562C>T
|
NP_001386904.1:p.Arg188Ter
|
|
NM_001399976.1:c.562C>T
|
NP_001386905.1:p.Arg188Ter
|
|
NM_002384.2:c.1069C>T
|
NP_002375.1:p.Arg357Ter
|
|
NM_002384.3:c.1069C>T
|
NP_002375.1:p.Arg357Ter
|
|
NM_015844.2:c.1069C>T
|
NP_056669.2:p.Arg357Ter
|
|
NM_015844.3:c.1069C>T
|
NP_056669.2:p.Arg357Ter
|
|
NM_015845.3:c.1168C>T
|
NP_056670.2:p.Arg390Ter
|
|
NM_015845.4:c.1168C>T
|
NP_056670.2:p.Arg390Ter
|
|
NM_015846.3:c.1237C>T
|
NP_056671.2:p.Arg413Ter
|
|
NM_015847.3:c.1090C>T
|
NP_056723.2:p.Arg364Ter
|
|
NM_015847.4:c.1090C>T
|
NP_056723.2:p.Arg364Ter
|
|
ENST00000269468.9:c.1237C>T
|
ENSP00000269468.5:p.Arg413Ter
|
|
ENST00000269471.9:c.1168C>T
|
ENSP00000269471.5:p.Arg390Ter
|
|
ENST00000339998.10:c.1237C>T
|
ENSP00000339546.5:p.Arg413Ter
|
|
ENST00000347968.7:c.1069C>T
|
ENSP00000285102.5:p.Arg357Ter
|
|
ENST00000353909.7:c.1090C>T
|
ENSP00000269469.5:p.Arg364Ter
|
|
ENST00000382948.9:c.1237C>T
|
ENSP00000372407.5:p.Arg413Ter
|
|
ENST00000398488.5:c.1069C>T
|
ENSP00000381502.1:p.Arg357Ter
|
|
ENST00000398493.5:c.1069C>T
|
ENSP00000381506.1:p.Arg357Ter
|
|
ENST00000398495.6:c.1144C>T
|
ENSP00000381508.2:p.Arg382Ter
|
|
ENST00000457839.6:c.1312C>T
|
ENSP00000405268.2:p.Arg438Ter
|
|
ENST00000585595.5:c.1312C>T
|
ENSP00000468430.1:p.Arg438Ter
|
|
ENST00000585672.5:c.1087C>T
|
ENSP00000466092.1:p.Arg363Ter
|
|
ENST00000587605.5:c.1069C>T
|
ENSP00000468042.1:p.Arg357Ter
|
|
ENST00000588937.5:c.1168C>T
|
ENSP00000467763.1:p.Arg390Ter
|
|
ENST00000589541.5:c.187C>T
|
ENSP00000466806.1:p.Arg63Ter
|
|
ENST00000589733.1:c.602C>T
|
|
|
ENST00000590208.5:c.1237C>T
|
ENSP00000468785.1:p.Arg413Ter
|
|
ENST00000591416.5:c.1237C>T
|
ENSP00000467017.1:p.Arg413Ter
|
|
ENST00000591535.5:c.1168C>T
|
ENSP00000465923.1:p.Arg390Ter
|
|
ENST00000592060.5:c.771C>T
|
|
|
ENST00000705655.1:c.1312C>T
|
ENSP00000516153.1:p.Arg438Ter
|
|
XM_005258271.2:c.1237C>T
|
XP_005258328.1:p.Arg413Ter
|
|
XM_005258271.3:c.1237C>T
|
XP_005258328.1:p.Arg413Ter
|
|
XM_006722456.2:c.1312C>T
|
XP_006722519.1:p.Arg438Ter
|
|
XM_006722456.3:c.1312C>T
|
XP_006722519.1:p.Arg438Ter
|
|
XM_011525987.1:c.1312C>T
|
XP_011524289.1:p.Arg438Ter
|
|
XM_011525988.1:c.1309C>T
|
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XP_016881248.1:p.Arg438Ter
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XP_016881253.1:p.Arg438Ter
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XP_016881254.1:p.Arg357Ter
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XP_016881257.1:p.Arg357Ter
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XP_024306947.1:p.Arg382Ter
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XP_024306949.1:p.Arg382Ter
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XM_024451182.1:c.1144C>T
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XP_024306950.1:p.Arg382Ter
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XM_024451183.1:c.562C>T
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XP_024306951.1:p.Arg188Ter
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