|
ENST00000370841.9:c.889G>C
MANE Select
|
ENSP00000359878.5:p.Asp297His
|
|
|
ENST00000473018.3:n.3013G>C
|
|
|
|
ENST00000532207.6:n.1778G>C
|
|
|
|
ENST00000541113.6:c.849+931G>C
|
ENSP00000442324.2:n.849+931G>C
|
|
|
ENST00000679509.1:n.1851G>C
|
|
|
|
ENST00000679530.1:c.*657G>C
|
ENSP00000506454.1:n.*657G>C
|
|
|
ENST00000679615.1:n.2904G>C
|
|
|
|
ENST00000679687.1:c.451G>C
|
ENSP00000506598.1:p.Asp151His
|
|
|
ENST00000679704.1:c.*655G>C
|
ENSP00000505117.1:n.*655G>C
|
|
|
ENST00000679709.1:c.*852G>C
|
ENSP00000506623.1:n.*852G>C
|
|
|
ENST00000679976.1:c.*473G>C
|
ENSP00000505565.1:n.*473G>C
|
|
|
ENST00000680166.1:n.4178G>C
|
|
|
|
ENST00000680315.1:n.772G>C
|
|
|
|
ENST00000680517.1:c.*277G>C
|
ENSP00000505803.1:n.*277G>C
|
|
|
ENST00000680582.1:n.1851G>C
|
|
|
|
ENST00000680613.1:c.*260G>C
|
ENSP00000506114.1:n.*260G>C
|
|
|
ENST00000680662.1:c.*803G>C
|
ENSP00000505080.1:n.*803G>C
|
|
|
ENST00000680691.1:c.*552G>C
|
ENSP00000506487.1:n.*552G>C
|
|
|
ENST00000680694.1:c.*477G>C
|
ENSP00000505658.1:n.*477G>C
|
|
|
ENST00000680743.1:c.*556G>C
|
ENSP00000505073.1:n.*556G>C
|
|
|
ENST00000680749.1:c.*174G>C
|
ENSP00000505122.1:n.*174G>C
|
|
|
ENST00000680798.1:c.*364G>C
|
ENSP00000505670.1:n.*364G>C
|
|
|
ENST00000680805.1:c.748G>C
|
ENSP00000505447.1:p.Asp250His
|
|
|
ENST00000680844.1:c.*673G>C
|
ENSP00000506541.1:n.*673G>C
|
|
|
ENST00000680948.1:c.*756G>C
|
ENSP00000505441.1:n.*756G>C
|
|
|
ENST00000680964.1:c.889G>C
|
ENSP00000505961.1:p.Asp297His
|
|
|
ENST00000681037.1:c.*2373G>C
|
ENSP00000506025.1:n.*2373G>C
|
|
|
ENST00000681063.1:c.*36G>C
|
ENSP00000506616.1:n.*36G>C
|
|
|
ENST00000681209.1:c.*544G>C
|
ENSP00000505877.1:n.*544G>C
|
|
|
ENST00000681278.1:n.1246G>C
|
|
|
|
ENST00000681289.1:n.4884G>C
|
|
|
|
ENST00000681361.1:c.*556G>C
|
ENSP00000506679.1:n.*556G>C
|
|
|
ENST00000681430.1:c.889G>C
|
ENSP00000506301.1:p.Asp297His
|
|
|
ENST00000681446.1:c.*471G>C
|
ENSP00000506244.1:n.*471G>C
|
|
|
ENST00000681450.1:c.*560G>C
|
ENSP00000505660.1:n.*560G>C
|
|
|
ENST00000681548.1:c.*475G>C
|
ENSP00000505275.1:n.*475G>C
|
|
|
ENST00000681616.1:c.*548G>C
|
ENSP00000505111.1:n.*548G>C
|
|
|
ENST00000681621.1:c.*473G>C
|
ENSP00000505770.1:n.*473G>C
|
|
|
ENST00000681680.1:n.2984G>C
|
|
|
|
ENST00000681720.1:c.*344G>C
|
ENSP00000505438.1:n.*344G>C
|
|
|
ENST00000681730.1:n.1111G>C
|
|
|
|
ENST00000681790.1:c.631G>C
|
ENSP00000505130.1:p.Asp211His
|
|
|
ENST00000681837.1:n.1505G>C
|
|
|
|
ENST00000681913.1:n.3013G>C
|
|
|
|
ENST00000681916.1:c.*657G>C
|
ENSP00000506477.1:n.*657G>C
|
|
|
ENST00000681930.1:n.3013G>C
|
|
|
|
ENST00000370834.9:c.988G>C
|
ENSP00000359871.5:p.Asp330His
|
|
|
ENST00000370841.8:c.889G>C
|
ENSP00000359878.4:p.Asp297His
|
|
|
ENST00000420607.6:c.901G>C
|
ENSP00000409612.2:p.Asp301His
|
|
|
ENST00000481374.1:n.40G>C
|
|
|
|
ENST00000525808.5:c.*475G>C
|
ENSP00000434823.1:n.*475G>C
|
|
|
ENST00000526129.5:c.*673G>C
|
ENSP00000434092.1:n.*673G>C
|
|
|
ENST00000526196.5:c.*657G>C
|
ENSP00000431953.1:n.*657G>C
|
|
|
ENST00000528016.1:c.103G>C
|
ENSP00000434284.1:p.Asp35His
|
|
|
ENST00000529059.5:n.798G>C
|
|
|
|
ENST00000532207.5:n.619G>C
|
|
|
|
ENST00000534334.5:c.*473G>C
|
ENSP00000435584.1:n.*473G>C
|
|
|
ENST00000541113.5:c.781G>C
|
ENSP00000442324.1:p.Asp261His
|
|
|
NM_000016.5:c.889G>C
|
NP_000007.1:p.Asp297His
|
|
|
NM_001127328.2:c.901G>C
|
NP_001120800.1:p.Asp301His
|
|
|
NM_001286042.1:c.781G>C
|
NP_001272971.1:p.Asp261His
|
|
|
NM_001286043.1:c.988G>C
|
NP_001272972.1:p.Asp330His
|
|
|
NM_001286044.1:c.322G>C
|
NP_001272973.1:p.Asp108His
|
|
|
NM_000016.6:c.889G>C
MANE Select
|
NP_000007.1:p.Asp297His
|
|
|
NM_001127328.3:c.901G>C
|
NP_001120800.1:p.Asp301His
|
|
|
NM_001286042.2:c.781G>C
|
NP_001272971.1:p.Asp261His
|
|
|
NM_001286043.2:c.988G>C
|
NP_001272972.1:p.Asp330His
|
|
|
NM_001286044.2:c.322G>C
|
NP_001272973.1:p.Asp108His
|
|
