|
ENST00000370841.9:c.746G>C
MANE Select
|
ENSP00000359878.5:p.Gly249Ala
|
|
|
ENST00000473018.3:n.2870G>C
|
|
|
|
ENST00000532207.6:n.1635G>C
|
|
|
|
ENST00000541113.6:c.746G>C
|
ENSP00000442324.2:p.Gly249Ala
|
|
|
ENST00000679509.1:n.1708G>C
|
|
|
|
ENST00000679530.1:c.*514G>C
|
ENSP00000506454.1:n.*514G>C
|
|
|
ENST00000679615.1:n.2761G>C
|
|
|
|
ENST00000679687.1:c.308G>C
|
ENSP00000506598.1:p.Gly103Ala
|
|
|
ENST00000679704.1:c.*512G>C
|
ENSP00000505117.1:n.*512G>C
|
|
|
ENST00000679709.1:c.*709G>C
|
ENSP00000506623.1:n.*709G>C
|
|
|
ENST00000679976.1:c.*330G>C
|
ENSP00000505565.1:n.*330G>C
|
|
|
ENST00000680166.1:n.4035G>C
|
|
|
|
ENST00000680517.1:c.*134G>C
|
ENSP00000505803.1:n.*134G>C
|
|
|
ENST00000680582.1:n.1708G>C
|
|
|
|
ENST00000680613.1:c.*117G>C
|
ENSP00000506114.1:n.*117G>C
|
|
|
ENST00000680662.1:c.*660G>C
|
ENSP00000505080.1:n.*660G>C
|
|
|
ENST00000680691.1:c.*409G>C
|
ENSP00000506487.1:n.*409G>C
|
|
|
ENST00000680694.1:c.*334G>C
|
ENSP00000505658.1:n.*334G>C
|
|
|
ENST00000680743.1:c.*413G>C
|
ENSP00000505073.1:n.*413G>C
|
|
|
ENST00000680749.1:c.*31G>C
|
ENSP00000505122.1:n.*31G>C
|
|
|
ENST00000680798.1:c.*221G>C
|
ENSP00000505670.1:n.*221G>C
|
|
|
ENST00000680805.1:c.709-995G>C
|
ENSP00000505447.1:n.709-995G>C
|
|
|
ENST00000680844.1:c.*530G>C
|
ENSP00000506541.1:n.*530G>C
|
|
|
ENST00000680948.1:c.*613G>C
|
ENSP00000505441.1:n.*613G>C
|
|
|
ENST00000680964.1:c.746G>C
|
ENSP00000505961.1:p.Gly249Ala
|
|
|
ENST00000681037.1:c.*2230G>C
|
ENSP00000506025.1:n.*2230G>C
|
|
|
ENST00000681063.1:c.600-995G>C
|
ENSP00000506616.1:n.600-995G>C
|
|
|
ENST00000681209.1:c.*401G>C
|
ENSP00000505877.1:n.*401G>C
|
|
|
ENST00000681278.1:n.1103G>C
|
|
|
|
ENST00000681289.1:n.4741G>C
|
|
|
|
ENST00000681361.1:c.*413G>C
|
ENSP00000506679.1:n.*413G>C
|
|
|
ENST00000681430.1:c.746G>C
|
ENSP00000506301.1:p.Gly249Ala
|
|
|
ENST00000681446.1:c.*328G>C
|
ENSP00000506244.1:n.*328G>C
|
|
|
ENST00000681450.1:c.*417G>C
|
ENSP00000505660.1:n.*417G>C
|
|
|
ENST00000681548.1:c.*332G>C
|
ENSP00000505275.1:n.*332G>C
|
|
|
ENST00000681616.1:c.*405G>C
|
ENSP00000505111.1:n.*405G>C
|
|
|
ENST00000681621.1:c.*330G>C
|
ENSP00000505770.1:n.*330G>C
|
|
|
ENST00000681680.1:n.2841G>C
|
|
|
|
ENST00000681720.1:c.*201G>C
|
ENSP00000505438.1:n.*201G>C
|
|
|
ENST00000681730.1:n.968G>C
|
|
|
|
ENST00000681790.1:c.488G>C
|
ENSP00000505130.1:p.Gly163Ala
|
|
|
ENST00000681837.1:n.1362G>C
|
|
|
|
ENST00000681913.1:n.2870G>C
|
|
|
|
ENST00000681916.1:c.*514G>C
|
ENSP00000506477.1:n.*514G>C
|
|
|
ENST00000681930.1:n.2870G>C
|
|
|
|
ENST00000370834.9:c.845G>C
|
ENSP00000359871.5:p.Gly282Ala
|
|
|
ENST00000370841.8:c.746G>C
|
ENSP00000359878.4:p.Gly249Ala
|
|
|
ENST00000420607.6:c.758G>C
|
ENSP00000409612.2:p.Gly253Ala
|
|
|
ENST00000525808.5:c.*332G>C
|
ENSP00000434823.1:n.*332G>C
|
|
|
ENST00000526129.5:c.*530G>C
|
ENSP00000434092.1:n.*530G>C
|
|
|
ENST00000526196.5:c.*514G>C
|
ENSP00000431953.1:n.*514G>C
|
|
|
ENST00000526930.1:n.519G>C
|
|
|
|
ENST00000529059.5:n.655G>C
|
|
|
|
ENST00000530953.6:c.*243G>C
|
ENSP00000431372.1:n.*243G>C
|
|
|
ENST00000532207.5:n.476G>C
|
|
|
|
ENST00000532509.5:c.*510G>C
|
ENSP00000432522.1:n.*510G>C
|
|
|
ENST00000534334.5:c.*330G>C
|
ENSP00000435584.1:n.*330G>C
|
|
|
ENST00000541113.5:c.638G>C
|
ENSP00000442324.1:p.Gly213Ala
|
|
|
NM_000016.5:c.746G>C
|
NP_000007.1:p.Gly249Ala
|
|
|
NM_001127328.2:c.758G>C
|
NP_001120800.1:p.Gly253Ala
|
|
|
NM_001286042.1:c.638G>C
|
NP_001272971.1:p.Gly213Ala
|
|
|
NM_001286043.1:c.845G>C
|
NP_001272972.1:p.Gly282Ala
|
|
|
NM_001286044.1:c.179G>C
|
NP_001272973.1:p.Gly60Ala
|
|
|
NM_000016.6:c.746G>C
MANE Select
|
NP_000007.1:p.Gly249Ala
|
|
|
NM_001127328.3:c.758G>C
|
NP_001120800.1:p.Gly253Ala
|
|
|
NM_001286042.2:c.638G>C
|
NP_001272971.1:p.Gly213Ala
|
|
|
NM_001286043.2:c.845G>C
|
NP_001272972.1:p.Gly282Ala
|
|
|
NM_001286044.2:c.179G>C
|
NP_001272973.1:p.Gly60Ala
|
|
