|
ENST00000370841.9:c.1030G>C
MANE Select
|
ENSP00000359878.5:p.Val344Leu
|
|
|
ENST00000473018.3:n.3154G>C
|
|
|
|
ENST00000532207.6:n.2041G>C
|
|
|
|
ENST00000541113.6:c.934G>C
|
ENSP00000442324.2:p.Val312Leu
|
|
|
ENST00000679509.1:n.1992G>C
|
|
|
|
ENST00000679530.1:c.*798G>C
|
ENSP00000506454.1:n.*798G>C
|
|
|
ENST00000679615.1:n.3045G>C
|
|
|
|
ENST00000679687.1:c.592G>C
|
ENSP00000506598.1:p.Val198Leu
|
|
|
ENST00000679704.1:c.*796G>C
|
ENSP00000505117.1:n.*796G>C
|
|
|
ENST00000679709.1:c.*993G>C
|
ENSP00000506623.1:n.*993G>C
|
|
|
ENST00000679976.1:c.*614G>C
|
ENSP00000505565.1:n.*614G>C
|
|
|
ENST00000680166.1:n.4319G>C
|
|
|
|
ENST00000680315.1:n.913G>C
|
|
|
|
ENST00000680517.1:c.*418G>C
|
ENSP00000505803.1:n.*418G>C
|
|
|
ENST00000680582.1:n.1992G>C
|
|
|
|
ENST00000680613.1:c.*523G>C
|
ENSP00000506114.1:n.*523G>C
|
|
|
ENST00000680662.1:c.*944G>C
|
ENSP00000505080.1:n.*944G>C
|
|
|
ENST00000680691.1:c.*693G>C
|
ENSP00000506487.1:n.*693G>C
|
|
|
ENST00000680694.1:c.*618G>C
|
ENSP00000505658.1:n.*618G>C
|
|
|
ENST00000680743.1:c.*819G>C
|
ENSP00000505073.1:n.*819G>C
|
|
|
ENST00000680749.1:c.*315G>C
|
ENSP00000505122.1:n.*315G>C
|
|
|
ENST00000680798.1:c.*505G>C
|
ENSP00000505670.1:n.*505G>C
|
|
|
ENST00000680805.1:c.889G>C
|
ENSP00000505447.1:p.Val297Leu
|
|
|
ENST00000680844.1:c.*814G>C
|
ENSP00000506541.1:n.*814G>C
|
|
|
ENST00000680948.1:c.*897G>C
|
ENSP00000505441.1:n.*897G>C
|
|
|
ENST00000680964.1:c.*123G>C
|
ENSP00000505961.1:n.*123G>C
|
|
|
ENST00000681037.1:c.*2514G>C
|
ENSP00000506025.1:n.*2514G>C
|
|
|
ENST00000681063.1:c.*299G>C
|
ENSP00000506616.1:n.*299G>C
|
|
|
ENST00000681209.1:c.*685G>C
|
ENSP00000505877.1:n.*685G>C
|
|
|
ENST00000681278.1:n.1732G>C
|
|
|
|
ENST00000681289.1:n.5025G>C
|
|
|
|
ENST00000681361.1:c.*697G>C
|
ENSP00000506679.1:n.*697G>C
|
|
|
ENST00000681430.1:c.*123G>C
|
ENSP00000506301.1:n.*123G>C
|
|
|
ENST00000681446.1:c.*734G>C
|
ENSP00000506244.1:n.*734G>C
|
|
|
ENST00000681450.1:c.*701G>C
|
ENSP00000505660.1:n.*701G>C
|
|
|
ENST00000681548.1:c.*616G>C
|
ENSP00000505275.1:n.*616G>C
|
|
|
ENST00000681616.1:c.*689G>C
|
ENSP00000505111.1:n.*689G>C
|
|
|
ENST00000681621.1:c.*614G>C
|
ENSP00000505770.1:n.*614G>C
|
|
|
ENST00000681680.1:n.3125G>C
|
|
|
|
ENST00000681720.1:c.*485G>C
|
ENSP00000505438.1:n.*485G>C
|
|
|
ENST00000681730.1:n.1252G>C
|
|
|
|
ENST00000681790.1:c.772G>C
|
ENSP00000505130.1:p.Val258Leu
|
|
|
ENST00000681837.1:n.1646G>C
|
|
|
|
ENST00000681913.1:n.3276G>C
|
|
|
|
ENST00000681916.1:c.*798G>C
|
ENSP00000506477.1:n.*798G>C
|
|
|
ENST00000681930.1:n.3154G>C
|
|
|
|
ENST00000370834.9:c.1129G>C
|
ENSP00000359871.5:p.Val377Leu
|
|
|
ENST00000370841.8:c.1030G>C
|
ENSP00000359878.4:p.Val344Leu
|
|
|
ENST00000420607.6:c.1042G>C
|
ENSP00000409612.2:p.Val348Leu
|
|
|
ENST00000481374.1:n.303G>C
|
|
|
|
ENST00000525808.5:c.*616G>C
|
ENSP00000434823.1:n.*616G>C
|
|
|
ENST00000526129.5:c.*814G>C
|
ENSP00000434092.1:n.*814G>C
|
|
|
ENST00000526196.5:c.*798G>C
|
ENSP00000431953.1:n.*798G>C
|
|
|
ENST00000528016.1:c.160-7971G>C
|
ENSP00000434284.1:n.160-7971G>C
|
|
|
ENST00000529059.5:n.939G>C
|
|
|
|
ENST00000532207.5:n.760G>C
|
|
|
|
ENST00000534334.5:c.*771G>C
|
ENSP00000435584.1:n.*771G>C
|
|
|
ENST00000541113.5:c.922G>C
|
ENSP00000442324.1:p.Val308Leu
|
|
|
NM_000016.5:c.1030G>C
|
NP_000007.1:p.Val344Leu
|
|
|
NM_001127328.2:c.1042G>C
|
NP_001120800.1:p.Val348Leu
|
|
|
NM_001286042.1:c.922G>C
|
NP_001272971.1:p.Val308Leu
|
|
|
NM_001286043.1:c.1129G>C
|
NP_001272972.1:p.Val377Leu
|
|
|
NM_001286044.1:c.463G>C
|
NP_001272973.1:p.Val155Leu
|
|
|
NM_000016.6:c.1030G>C
MANE Select
|
NP_000007.1:p.Val344Leu
|
|
|
NM_001127328.3:c.1042G>C
|
NP_001120800.1:p.Val348Leu
|
|
|
NM_001286042.2:c.922G>C
|
NP_001272971.1:p.Val308Leu
|
|
|
NM_001286043.2:c.1129G>C
|
NP_001272972.1:p.Val377Leu
|
|
|
NM_001286044.2:c.463G>C
|
NP_001272973.1:p.Val155Leu
|
|
