|
ENST00000370841.9:c.850G>C
MANE Select
|
ENSP00000359878.5:p.Val284Leu
|
|
|
ENST00000473018.3:n.2974G>C
|
|
|
|
ENST00000532207.6:n.1739G>C
|
|
|
|
ENST00000541113.6:c.849+892G>C
|
ENSP00000442324.2:n.849+892G>C
|
|
|
ENST00000679509.1:n.1812G>C
|
|
|
|
ENST00000679530.1:c.*618G>C
|
ENSP00000506454.1:n.*618G>C
|
|
|
ENST00000679615.1:n.2865G>C
|
|
|
|
ENST00000679687.1:c.412G>C
|
ENSP00000506598.1:p.Val138Leu
|
|
|
ENST00000679704.1:c.*616G>C
|
ENSP00000505117.1:n.*616G>C
|
|
|
ENST00000679709.1:c.*813G>C
|
ENSP00000506623.1:n.*813G>C
|
|
|
ENST00000679976.1:c.*434G>C
|
ENSP00000505565.1:n.*434G>C
|
|
|
ENST00000680166.1:n.4139G>C
|
|
|
|
ENST00000680315.1:n.733G>C
|
|
|
|
ENST00000680517.1:c.*238G>C
|
ENSP00000505803.1:n.*238G>C
|
|
|
ENST00000680582.1:n.1812G>C
|
|
|
|
ENST00000680613.1:c.*221G>C
|
ENSP00000506114.1:n.*221G>C
|
|
|
ENST00000680662.1:c.*764G>C
|
ENSP00000505080.1:n.*764G>C
|
|
|
ENST00000680691.1:c.*513G>C
|
ENSP00000506487.1:n.*513G>C
|
|
|
ENST00000680694.1:c.*438G>C
|
ENSP00000505658.1:n.*438G>C
|
|
|
ENST00000680743.1:c.*517G>C
|
ENSP00000505073.1:n.*517G>C
|
|
|
ENST00000680749.1:c.*135G>C
|
ENSP00000505122.1:n.*135G>C
|
|
|
ENST00000680798.1:c.*325G>C
|
ENSP00000505670.1:n.*325G>C
|
|
|
ENST00000680805.1:c.709G>C
|
ENSP00000505447.1:p.Val237Leu
|
|
|
ENST00000680844.1:c.*634G>C
|
ENSP00000506541.1:n.*634G>C
|
|
|
ENST00000680948.1:c.*717G>C
|
ENSP00000505441.1:n.*717G>C
|
|
|
ENST00000680964.1:c.850G>C
|
ENSP00000505961.1:p.Val284Leu
|
|
|
ENST00000681037.1:c.*2334G>C
|
ENSP00000506025.1:n.*2334G>C
|
|
|
ENST00000681063.1:c.600G>C
|
ENSP00000506616.1:p.Trp200Cys
|
|
|
ENST00000681209.1:c.*505G>C
|
ENSP00000505877.1:n.*505G>C
|
|
|
ENST00000681278.1:n.1207G>C
|
|
|
|
ENST00000681289.1:n.4845G>C
|
|
|
|
ENST00000681361.1:c.*517G>C
|
ENSP00000506679.1:n.*517G>C
|
|
|
ENST00000681430.1:c.850G>C
|
ENSP00000506301.1:p.Val284Leu
|
|
|
ENST00000681446.1:c.*432G>C
|
ENSP00000506244.1:n.*432G>C
|
|
|
ENST00000681450.1:c.*521G>C
|
ENSP00000505660.1:n.*521G>C
|
|
|
ENST00000681548.1:c.*436G>C
|
ENSP00000505275.1:n.*436G>C
|
|
|
ENST00000681616.1:c.*509G>C
|
ENSP00000505111.1:n.*509G>C
|
|
|
ENST00000681621.1:c.*434G>C
|
ENSP00000505770.1:n.*434G>C
|
|
|
ENST00000681680.1:n.2945G>C
|
|
|
|
ENST00000681720.1:c.*305G>C
|
ENSP00000505438.1:n.*305G>C
|
|
|
ENST00000681730.1:n.1072G>C
|
|
|
|
ENST00000681790.1:c.592G>C
|
ENSP00000505130.1:p.Val198Leu
|
|
|
ENST00000681837.1:n.1466G>C
|
|
|
|
ENST00000681913.1:n.2974G>C
|
|
|
|
ENST00000681916.1:c.*618G>C
|
ENSP00000506477.1:n.*618G>C
|
|
|
ENST00000681930.1:n.2974G>C
|
|
|
|
ENST00000370834.9:c.949G>C
|
ENSP00000359871.5:p.Val317Leu
|
|
|
ENST00000370841.8:c.850G>C
|
ENSP00000359878.4:p.Val284Leu
|
|
|
ENST00000420607.6:c.862G>C
|
ENSP00000409612.2:p.Val288Leu
|
|
|
ENST00000481374.1:n.1G>C
|
|
|
|
ENST00000525808.5:c.*436G>C
|
ENSP00000434823.1:n.*436G>C
|
|
|
ENST00000526129.5:c.*634G>C
|
ENSP00000434092.1:n.*634G>C
|
|
|
ENST00000526196.5:c.*618G>C
|
ENSP00000431953.1:n.*618G>C
|
|
|
ENST00000528016.1:c.64G>C
|
ENSP00000434284.1:p.Val22Leu
|
|
|
ENST00000529059.5:n.759G>C
|
|
|
|
ENST00000532207.5:n.580G>C
|
|
|
|
ENST00000534334.5:c.*434G>C
|
ENSP00000435584.1:n.*434G>C
|
|
|
ENST00000541113.5:c.742G>C
|
ENSP00000442324.1:p.Val248Leu
|
|
|
NM_000016.5:c.850G>C
|
NP_000007.1:p.Val284Leu
|
|
|
NM_001127328.2:c.862G>C
|
NP_001120800.1:p.Val288Leu
|
|
|
NM_001286042.1:c.742G>C
|
NP_001272971.1:p.Val248Leu
|
|
|
NM_001286043.1:c.949G>C
|
NP_001272972.1:p.Val317Leu
|
|
|
NM_001286044.1:c.283G>C
|
NP_001272973.1:p.Val95Leu
|
|
|
NM_000016.6:c.850G>C
MANE Select
|
NP_000007.1:p.Val284Leu
|
|
|
NM_001127328.3:c.862G>C
|
NP_001120800.1:p.Val288Leu
|
|
|
NM_001286042.2:c.742G>C
|
NP_001272971.1:p.Val248Leu
|
|
|
NM_001286043.2:c.949G>C
|
NP_001272972.1:p.Val317Leu
|
|
|
NM_001286044.2:c.283G>C
|
NP_001272973.1:p.Val95Leu
|
|
