|
ENST00000370841.9:c.991G>T
MANE Select
|
ENSP00000359878.5:p.Glu331Ter
|
|
|
ENST00000473018.3:n.3115G>T
|
|
|
|
ENST00000532207.6:n.2002G>T
|
|
|
|
ENST00000541113.6:c.895G>T
|
ENSP00000442324.2:p.Glu299Ter
|
|
|
ENST00000679509.1:n.1953G>T
|
|
|
|
ENST00000679530.1:c.*759G>T
|
ENSP00000506454.1:n.*759G>T
|
|
|
ENST00000679615.1:n.3006G>T
|
|
|
|
ENST00000679687.1:c.553G>T
|
ENSP00000506598.1:p.Glu185Ter
|
|
|
ENST00000679704.1:c.*757G>T
|
ENSP00000505117.1:n.*757G>T
|
|
|
ENST00000679709.1:c.*954G>T
|
ENSP00000506623.1:n.*954G>T
|
|
|
ENST00000679976.1:c.*575G>T
|
ENSP00000505565.1:n.*575G>T
|
|
|
ENST00000680166.1:n.4280G>T
|
|
|
|
ENST00000680315.1:n.874G>T
|
|
|
|
ENST00000680517.1:c.*379G>T
|
ENSP00000505803.1:n.*379G>T
|
|
|
ENST00000680582.1:n.1953G>T
|
|
|
|
ENST00000680613.1:c.*484G>T
|
ENSP00000506114.1:n.*484G>T
|
|
|
ENST00000680662.1:c.*905G>T
|
ENSP00000505080.1:n.*905G>T
|
|
|
ENST00000680691.1:c.*654G>T
|
ENSP00000506487.1:n.*654G>T
|
|
|
ENST00000680694.1:c.*579G>T
|
ENSP00000505658.1:n.*579G>T
|
|
|
ENST00000680743.1:c.*780G>T
|
ENSP00000505073.1:n.*780G>T
|
|
|
ENST00000680749.1:c.*276G>T
|
ENSP00000505122.1:n.*276G>T
|
|
|
ENST00000680798.1:c.*466G>T
|
ENSP00000505670.1:n.*466G>T
|
|
|
ENST00000680805.1:c.850G>T
|
ENSP00000505447.1:p.Glu284Ter
|
|
|
ENST00000680844.1:c.*775G>T
|
ENSP00000506541.1:n.*775G>T
|
|
|
ENST00000680948.1:c.*858G>T
|
ENSP00000505441.1:n.*858G>T
|
|
|
ENST00000680964.1:c.*84G>T
|
ENSP00000505961.1:n.*84G>T
|
|
|
ENST00000681037.1:c.*2475G>T
|
ENSP00000506025.1:n.*2475G>T
|
|
|
ENST00000681063.1:c.*260G>T
|
ENSP00000506616.1:n.*260G>T
|
|
|
ENST00000681209.1:c.*646G>T
|
ENSP00000505877.1:n.*646G>T
|
|
|
ENST00000681278.1:n.1693G>T
|
|
|
|
ENST00000681289.1:n.4986G>T
|
|
|
|
ENST00000681361.1:c.*658G>T
|
ENSP00000506679.1:n.*658G>T
|
|
|
ENST00000681430.1:c.*84G>T
|
ENSP00000506301.1:n.*84G>T
|
|
|
ENST00000681446.1:c.*695G>T
|
ENSP00000506244.1:n.*695G>T
|
|
|
ENST00000681450.1:c.*662G>T
|
ENSP00000505660.1:n.*662G>T
|
|
|
ENST00000681548.1:c.*577G>T
|
ENSP00000505275.1:n.*577G>T
|
|
|
ENST00000681616.1:c.*650G>T
|
ENSP00000505111.1:n.*650G>T
|
|
|
ENST00000681621.1:c.*575G>T
|
ENSP00000505770.1:n.*575G>T
|
|
|
ENST00000681680.1:n.3086G>T
|
|
|
|
ENST00000681720.1:c.*446G>T
|
ENSP00000505438.1:n.*446G>T
|
|
|
ENST00000681730.1:n.1213G>T
|
|
|
|
ENST00000681790.1:c.733G>T
|
ENSP00000505130.1:p.Glu245Ter
|
|
|
ENST00000681837.1:n.1607G>T
|
|
|
|
ENST00000681913.1:n.3237G>T
|
|
|
|
ENST00000681916.1:c.*759G>T
|
ENSP00000506477.1:n.*759G>T
|
|
|
ENST00000681930.1:n.3115G>T
|
|
|
|
ENST00000370834.9:c.1090G>T
|
ENSP00000359871.5:p.Glu364Ter
|
|
|
ENST00000370841.8:c.991G>T
|
ENSP00000359878.4:p.Glu331Ter
|
|
|
ENST00000420607.6:c.1003G>T
|
ENSP00000409612.2:p.Glu335Ter
|
|
|
ENST00000481374.1:n.264G>T
|
|
|
|
ENST00000525808.5:c.*577G>T
|
ENSP00000434823.1:n.*577G>T
|
|
|
ENST00000526129.5:c.*775G>T
|
ENSP00000434092.1:n.*775G>T
|
|
|
ENST00000526196.5:c.*759G>T
|
ENSP00000431953.1:n.*759G>T
|
|
|
ENST00000528016.1:c.160-8010G>T
|
ENSP00000434284.1:n.160-8010G>T
|
|
|
ENST00000529059.5:n.900G>T
|
|
|
|
ENST00000532207.5:n.721G>T
|
|
|
|
ENST00000534334.5:c.*732G>T
|
ENSP00000435584.1:n.*732G>T
|
|
|
ENST00000541113.5:c.883G>T
|
ENSP00000442324.1:p.Glu295Ter
|
|
|
NM_000016.5:c.991G>T
|
NP_000007.1:p.Glu331Ter
|
|
|
NM_001127328.2:c.1003G>T
|
NP_001120800.1:p.Glu335Ter
|
|
|
NM_001286042.1:c.883G>T
|
NP_001272971.1:p.Glu295Ter
|
|
|
NM_001286043.1:c.1090G>T
|
NP_001272972.1:p.Glu364Ter
|
|
|
NM_001286044.1:c.424G>T
|
NP_001272973.1:p.Glu142Ter
|
|
|
NM_000016.6:c.991G>T
MANE Select
|
NP_000007.1:p.Glu331Ter
|
|
|
NM_001127328.3:c.1003G>T
|
NP_001120800.1:p.Glu335Ter
|
|
|
NM_001286042.2:c.883G>T
|
NP_001272971.1:p.Glu295Ter
|
|
|
NM_001286043.2:c.1090G>T
|
NP_001272972.1:p.Glu364Ter
|
|
|
NM_001286044.2:c.424G>T
|
NP_001272973.1:p.Glu142Ter
|
|
