|
ENST00000370841.9:c.364G>C
MANE Select
|
ENSP00000359878.5:p.Ala122Pro
|
|
|
ENST00000473018.3:n.1326G>C
|
|
|
|
ENST00000525881.6:n.1326G>C
|
|
|
|
ENST00000541113.6:c.364G>C
|
ENSP00000442324.2:p.Ala122Pro
|
|
|
ENST00000679509.1:n.1326G>C
|
|
|
|
ENST00000679530.1:c.*132G>C
|
ENSP00000506454.1:n.*132G>C
|
|
|
ENST00000679615.1:n.1326G>C
|
|
|
|
ENST00000679687.1:c.31-6375G>C
|
ENSP00000506598.1:n.31-6375G>C
|
|
|
ENST00000679704.1:c.*153+456G>C
|
ENSP00000505117.1:n.*153+456G>C
|
|
|
ENST00000679709.1:c.*327G>C
|
ENSP00000506623.1:n.*327G>C
|
|
|
ENST00000679804.1:n.207+683G>C
|
|
|
|
ENST00000679976.1:c.286+683G>C
|
ENSP00000505565.1:n.286+683G>C
|
|
|
ENST00000680166.1:n.2491G>C
|
|
|
|
ENST00000680517.1:c.286+683G>C
|
ENSP00000505803.1:n.286+683G>C
|
|
|
ENST00000680582.1:n.1326G>C
|
|
|
|
ENST00000680613.1:c.364G>C
|
ENSP00000506114.1:p.Ala122Pro
|
|
|
ENST00000680662.1:c.*278G>C
|
ENSP00000505080.1:n.*278G>C
|
|
|
ENST00000680691.1:c.*50+683G>C
|
ENSP00000506487.1:n.*50+683G>C
|
|
|
ENST00000680694.1:c.286+683G>C
|
ENSP00000505658.1:n.286+683G>C
|
|
|
ENST00000680743.1:c.*54+683G>C
|
ENSP00000505073.1:n.*54+683G>C
|
|
|
ENST00000680749.1:c.364G>C
|
ENSP00000505122.1:p.Ala122Pro
|
|
|
ENST00000680798.1:c.286+683G>C
|
ENSP00000505670.1:n.286+683G>C
|
|
|
ENST00000680805.1:c.364G>C
|
ENSP00000505447.1:p.Ala122Pro
|
|
|
ENST00000680844.1:c.*148G>C
|
ENSP00000506541.1:n.*148G>C
|
|
|
ENST00000680948.1:c.*231G>C
|
ENSP00000505441.1:n.*231G>C
|
|
|
ENST00000680964.1:c.364G>C
|
ENSP00000505961.1:p.Ala122Pro
|
|
|
ENST00000681037.1:c.364G>C
|
ENSP00000506025.1:p.Ala122Pro
|
|
|
ENST00000681063.1:c.364G>C
|
ENSP00000506616.1:p.Ala122Pro
|
|
|
ENST00000681209.1:c.*128G>C
|
ENSP00000505877.1:n.*128G>C
|
|
|
ENST00000681278.1:n.721G>C
|
|
|
|
ENST00000681289.1:n.721G>C
|
|
|
|
ENST00000681361.1:c.*54+683G>C
|
ENSP00000506679.1:n.*54+683G>C
|
|
|
ENST00000681430.1:c.364G>C
|
ENSP00000506301.1:p.Ala122Pro
|
|
|
ENST00000681446.1:c.286+683G>C
|
ENSP00000506244.1:n.286+683G>C
|
|
|
ENST00000681450.1:c.*54+683G>C
|
ENSP00000505660.1:n.*54+683G>C
|
|
|
ENST00000681548.1:c.*54+683G>C
|
ENSP00000505275.1:n.*54+683G>C
|
|
|
ENST00000681616.1:c.*132G>C
|
ENSP00000505111.1:n.*132G>C
|
|
|
ENST00000681621.1:c.286+683G>C
|
ENSP00000505770.1:n.286+683G>C
|
|
|
ENST00000681680.1:n.1326G>C
|
|
|
|
ENST00000681720.1:c.*54+683G>C
|
ENSP00000505438.1:n.*54+683G>C
|
|
|
ENST00000681730.1:n.586G>C
|
|
|
|
ENST00000681790.1:c.106G>C
|
ENSP00000505130.1:p.Ala36Pro
|
|
|
ENST00000681837.1:n.980G>C
|
|
|
|
ENST00000681913.1:n.1326G>C
|
|
|
|
ENST00000681916.1:c.*132G>C
|
ENSP00000506477.1:n.*132G>C
|
|
|
ENST00000681930.1:n.1326G>C
|
|
|
|
ENST00000370834.9:c.463G>C
|
ENSP00000359871.5:p.Ala155Pro
|
|
|
ENST00000370841.8:c.364G>C
|
ENSP00000359878.4:p.Ala122Pro
|
|
|
ENST00000420607.6:c.376G>C
|
ENSP00000409612.2:p.Ala126Pro
|
|
|
ENST00000525808.5:c.*54+683G>C
|
ENSP00000434823.1:n.*54+683G>C
|
|
|
ENST00000526129.5:c.*148G>C
|
ENSP00000434092.1:n.*148G>C
|
|
|
ENST00000526196.5:c.*132G>C
|
ENSP00000431953.1:n.*132G>C
|
|
|
ENST00000529059.5:n.296+683G>C
|
|
|
|
ENST00000530953.6:c.118+5117G>C
|
ENSP00000431372.1:n.118+5117G>C
|
|
|
ENST00000532509.5:c.*128G>C
|
ENSP00000432522.1:n.*128G>C
|
|
|
ENST00000534334.5:c.286+683G>C
|
ENSP00000435584.1:n.286+683G>C
|
|
|
ENST00000541113.5:c.256G>C
|
ENSP00000442324.1:p.Ala86Pro
|
|
|
NM_000016.5:c.364G>C
|
NP_000007.1:p.Ala122Pro
|
|
|
NM_001127328.2:c.376G>C
|
NP_001120800.1:p.Ala126Pro
|
|
|
NM_001286042.1:c.256G>C
|
NP_001272971.1:p.Ala86Pro
|
|
|
NM_001286043.1:c.463G>C
|
NP_001272972.1:p.Ala155Pro
|
|
|
NM_001286044.1:c.-100+683G>C
|
NP_001272973.1:n.-100+683G>C
|
|
|
NM_000016.6:c.364G>C
MANE Select
|
NP_000007.1:p.Ala122Pro
|
|
|
NM_001127328.3:c.376G>C
|
NP_001120800.1:p.Ala126Pro
|
|
|
NM_001286042.2:c.256G>C
|
NP_001272971.1:p.Ala86Pro
|
|
|
NM_001286043.2:c.463G>C
|
NP_001272972.1:p.Ala155Pro
|
|
|
NM_001286044.2:c.-100+683G>C
|
NP_001272973.1:n.-100+683G>C
|
|
