|
ENST00000370841.9:c.1027G>C
MANE Select
|
ENSP00000359878.5:p.Glu343Gln
|
|
|
ENST00000473018.3:n.3151G>C
|
|
|
|
ENST00000532207.6:n.2038G>C
|
|
|
|
ENST00000541113.6:c.931G>C
|
ENSP00000442324.2:p.Glu311Gln
|
|
|
ENST00000679509.1:n.1989G>C
|
|
|
|
ENST00000679530.1:c.*795G>C
|
ENSP00000506454.1:n.*795G>C
|
|
|
ENST00000679615.1:n.3042G>C
|
|
|
|
ENST00000679687.1:c.589G>C
|
ENSP00000506598.1:p.Glu197Gln
|
|
|
ENST00000679704.1:c.*793G>C
|
ENSP00000505117.1:n.*793G>C
|
|
|
ENST00000679709.1:c.*990G>C
|
ENSP00000506623.1:n.*990G>C
|
|
|
ENST00000679976.1:c.*611G>C
|
ENSP00000505565.1:n.*611G>C
|
|
|
ENST00000680166.1:n.4316G>C
|
|
|
|
ENST00000680315.1:n.910G>C
|
|
|
|
ENST00000680517.1:c.*415G>C
|
ENSP00000505803.1:n.*415G>C
|
|
|
ENST00000680582.1:n.1989G>C
|
|
|
|
ENST00000680613.1:c.*520G>C
|
ENSP00000506114.1:n.*520G>C
|
|
|
ENST00000680662.1:c.*941G>C
|
ENSP00000505080.1:n.*941G>C
|
|
|
ENST00000680691.1:c.*690G>C
|
ENSP00000506487.1:n.*690G>C
|
|
|
ENST00000680694.1:c.*615G>C
|
ENSP00000505658.1:n.*615G>C
|
|
|
ENST00000680743.1:c.*816G>C
|
ENSP00000505073.1:n.*816G>C
|
|
|
ENST00000680749.1:c.*312G>C
|
ENSP00000505122.1:n.*312G>C
|
|
|
ENST00000680798.1:c.*502G>C
|
ENSP00000505670.1:n.*502G>C
|
|
|
ENST00000680805.1:c.886G>C
|
ENSP00000505447.1:p.Glu296Gln
|
|
|
ENST00000680844.1:c.*811G>C
|
ENSP00000506541.1:n.*811G>C
|
|
|
ENST00000680948.1:c.*894G>C
|
ENSP00000505441.1:n.*894G>C
|
|
|
ENST00000680964.1:c.*120G>C
|
ENSP00000505961.1:n.*120G>C
|
|
|
ENST00000681037.1:c.*2511G>C
|
ENSP00000506025.1:n.*2511G>C
|
|
|
ENST00000681063.1:c.*296G>C
|
ENSP00000506616.1:n.*296G>C
|
|
|
ENST00000681209.1:c.*682G>C
|
ENSP00000505877.1:n.*682G>C
|
|
|
ENST00000681278.1:n.1729G>C
|
|
|
|
ENST00000681289.1:n.5022G>C
|
|
|
|
ENST00000681361.1:c.*694G>C
|
ENSP00000506679.1:n.*694G>C
|
|
|
ENST00000681430.1:c.*120G>C
|
ENSP00000506301.1:n.*120G>C
|
|
|
ENST00000681446.1:c.*731G>C
|
ENSP00000506244.1:n.*731G>C
|
|
|
ENST00000681450.1:c.*698G>C
|
ENSP00000505660.1:n.*698G>C
|
|
|
ENST00000681548.1:c.*613G>C
|
ENSP00000505275.1:n.*613G>C
|
|
|
ENST00000681616.1:c.*686G>C
|
ENSP00000505111.1:n.*686G>C
|
|
|
ENST00000681621.1:c.*611G>C
|
ENSP00000505770.1:n.*611G>C
|
|
|
ENST00000681680.1:n.3122G>C
|
|
|
|
ENST00000681720.1:c.*482G>C
|
ENSP00000505438.1:n.*482G>C
|
|
|
ENST00000681730.1:n.1249G>C
|
|
|
|
ENST00000681790.1:c.769G>C
|
ENSP00000505130.1:p.Glu257Gln
|
|
|
ENST00000681837.1:n.1643G>C
|
|
|
|
ENST00000681913.1:n.3273G>C
|
|
|
|
ENST00000681916.1:c.*795G>C
|
ENSP00000506477.1:n.*795G>C
|
|
|
ENST00000681930.1:n.3151G>C
|
|
|
|
ENST00000370834.9:c.1126G>C
|
ENSP00000359871.5:p.Glu376Gln
|
|
|
ENST00000370841.8:c.1027G>C
|
ENSP00000359878.4:p.Glu343Gln
|
|
|
ENST00000420607.6:c.1039G>C
|
ENSP00000409612.2:p.Glu347Gln
|
|
|
ENST00000481374.1:n.300G>C
|
|
|
|
ENST00000525808.5:c.*613G>C
|
ENSP00000434823.1:n.*613G>C
|
|
|
ENST00000526129.5:c.*811G>C
|
ENSP00000434092.1:n.*811G>C
|
|
|
ENST00000526196.5:c.*795G>C
|
ENSP00000431953.1:n.*795G>C
|
|
|
ENST00000528016.1:c.160-7974G>C
|
ENSP00000434284.1:n.160-7974G>C
|
|
|
ENST00000529059.5:n.936G>C
|
|
|
|
ENST00000532207.5:n.757G>C
|
|
|
|
ENST00000534334.5:c.*768G>C
|
ENSP00000435584.1:n.*768G>C
|
|
|
ENST00000541113.5:c.919G>C
|
ENSP00000442324.1:p.Glu307Gln
|
|
|
NM_000016.5:c.1027G>C
|
NP_000007.1:p.Glu343Gln
|
|
|
NM_001127328.2:c.1039G>C
|
NP_001120800.1:p.Glu347Gln
|
|
|
NM_001286042.1:c.919G>C
|
NP_001272971.1:p.Glu307Gln
|
|
|
NM_001286043.1:c.1126G>C
|
NP_001272972.1:p.Glu376Gln
|
|
|
NM_001286044.1:c.460G>C
|
NP_001272973.1:p.Glu154Gln
|
|
|
NM_000016.6:c.1027G>C
MANE Select
|
NP_000007.1:p.Glu343Gln
|
|
|
NM_001127328.3:c.1039G>C
|
NP_001120800.1:p.Glu347Gln
|
|
|
NM_001286042.2:c.919G>C
|
NP_001272971.1:p.Glu307Gln
|
|
|
NM_001286043.2:c.1126G>C
|
NP_001272972.1:p.Glu376Gln
|
|
|
NM_001286044.2:c.460G>C
|
NP_001272973.1:p.Glu154Gln
|
|
