|
ENST00000370841.9:c.853G>C
MANE Select
|
ENSP00000359878.5:p.Ala285Pro
|
|
|
ENST00000473018.3:n.2977G>C
|
|
|
|
ENST00000532207.6:n.1742G>C
|
|
|
|
ENST00000541113.6:c.849+895G>C
|
ENSP00000442324.2:n.849+895G>C
|
|
|
ENST00000679509.1:n.1815G>C
|
|
|
|
ENST00000679530.1:c.*621G>C
|
ENSP00000506454.1:n.*621G>C
|
|
|
ENST00000679615.1:n.2868G>C
|
|
|
|
ENST00000679687.1:c.415G>C
|
ENSP00000506598.1:p.Ala139Pro
|
|
|
ENST00000679704.1:c.*619G>C
|
ENSP00000505117.1:n.*619G>C
|
|
|
ENST00000679709.1:c.*816G>C
|
ENSP00000506623.1:n.*816G>C
|
|
|
ENST00000679976.1:c.*437G>C
|
ENSP00000505565.1:n.*437G>C
|
|
|
ENST00000680166.1:n.4142G>C
|
|
|
|
ENST00000680315.1:n.736G>C
|
|
|
|
ENST00000680517.1:c.*241G>C
|
ENSP00000505803.1:n.*241G>C
|
|
|
ENST00000680582.1:n.1815G>C
|
|
|
|
ENST00000680613.1:c.*224G>C
|
ENSP00000506114.1:n.*224G>C
|
|
|
ENST00000680662.1:c.*767G>C
|
ENSP00000505080.1:n.*767G>C
|
|
|
ENST00000680691.1:c.*516G>C
|
ENSP00000506487.1:n.*516G>C
|
|
|
ENST00000680694.1:c.*441G>C
|
ENSP00000505658.1:n.*441G>C
|
|
|
ENST00000680743.1:c.*520G>C
|
ENSP00000505073.1:n.*520G>C
|
|
|
ENST00000680749.1:c.*138G>C
|
ENSP00000505122.1:n.*138G>C
|
|
|
ENST00000680798.1:c.*328G>C
|
ENSP00000505670.1:n.*328G>C
|
|
|
ENST00000680805.1:c.712G>C
|
ENSP00000505447.1:p.Ala238Pro
|
|
|
ENST00000680844.1:c.*637G>C
|
ENSP00000506541.1:n.*637G>C
|
|
|
ENST00000680948.1:c.*720G>C
|
ENSP00000505441.1:n.*720G>C
|
|
|
ENST00000680964.1:c.853G>C
|
ENSP00000505961.1:p.Ala285Pro
|
|
|
ENST00000681037.1:c.*2337G>C
|
ENSP00000506025.1:n.*2337G>C
|
|
|
ENST00000681063.1:c.603G>C
|
ENSP00000506616.1:p.Ter201Tyr
|
|
|
ENST00000681209.1:c.*508G>C
|
ENSP00000505877.1:n.*508G>C
|
|
|
ENST00000681278.1:n.1210G>C
|
|
|
|
ENST00000681289.1:n.4848G>C
|
|
|
|
ENST00000681361.1:c.*520G>C
|
ENSP00000506679.1:n.*520G>C
|
|
|
ENST00000681430.1:c.853G>C
|
ENSP00000506301.1:p.Ala285Pro
|
|
|
ENST00000681446.1:c.*435G>C
|
ENSP00000506244.1:n.*435G>C
|
|
|
ENST00000681450.1:c.*524G>C
|
ENSP00000505660.1:n.*524G>C
|
|
|
ENST00000681548.1:c.*439G>C
|
ENSP00000505275.1:n.*439G>C
|
|
|
ENST00000681616.1:c.*512G>C
|
ENSP00000505111.1:n.*512G>C
|
|
|
ENST00000681621.1:c.*437G>C
|
ENSP00000505770.1:n.*437G>C
|
|
|
ENST00000681680.1:n.2948G>C
|
|
|
|
ENST00000681720.1:c.*308G>C
|
ENSP00000505438.1:n.*308G>C
|
|
|
ENST00000681730.1:n.1075G>C
|
|
|
|
ENST00000681790.1:c.595G>C
|
ENSP00000505130.1:p.Ala199Pro
|
|
|
ENST00000681837.1:n.1469G>C
|
|
|
|
ENST00000681913.1:n.2977G>C
|
|
|
|
ENST00000681916.1:c.*621G>C
|
ENSP00000506477.1:n.*621G>C
|
|
|
ENST00000681930.1:n.2977G>C
|
|
|
|
ENST00000370834.9:c.952G>C
|
ENSP00000359871.5:p.Ala318Pro
|
|
|
ENST00000370841.8:c.853G>C
|
ENSP00000359878.4:p.Ala285Pro
|
|
|
ENST00000420607.6:c.865G>C
|
ENSP00000409612.2:p.Ala289Pro
|
|
|
ENST00000481374.1:n.4G>C
|
|
|
|
ENST00000525808.5:c.*439G>C
|
ENSP00000434823.1:n.*439G>C
|
|
|
ENST00000526129.5:c.*637G>C
|
ENSP00000434092.1:n.*637G>C
|
|
|
ENST00000526196.5:c.*621G>C
|
ENSP00000431953.1:n.*621G>C
|
|
|
ENST00000528016.1:c.67G>C
|
ENSP00000434284.1:p.Ala23Pro
|
|
|
ENST00000529059.5:n.762G>C
|
|
|
|
ENST00000532207.5:n.583G>C
|
|
|
|
ENST00000534334.5:c.*437G>C
|
ENSP00000435584.1:n.*437G>C
|
|
|
ENST00000541113.5:c.745G>C
|
ENSP00000442324.1:p.Ala249Pro
|
|
|
NM_000016.5:c.853G>C
|
NP_000007.1:p.Ala285Pro
|
|
|
NM_001127328.2:c.865G>C
|
NP_001120800.1:p.Ala289Pro
|
|
|
NM_001286042.1:c.745G>C
|
NP_001272971.1:p.Ala249Pro
|
|
|
NM_001286043.1:c.952G>C
|
NP_001272972.1:p.Ala318Pro
|
|
|
NM_001286044.1:c.286G>C
|
NP_001272973.1:p.Ala96Pro
|
|
|
NM_000016.6:c.853G>C
MANE Select
|
NP_000007.1:p.Ala285Pro
|
|
|
NM_001127328.3:c.865G>C
|
NP_001120800.1:p.Ala289Pro
|
|
|
NM_001286042.2:c.745G>C
|
NP_001272971.1:p.Ala249Pro
|
|
|
NM_001286043.2:c.952G>C
|
NP_001272972.1:p.Ala318Pro
|
|
|
NM_001286044.2:c.286G>C
|
NP_001272973.1:p.Ala96Pro
|
|
