|
ENST00000341012.13:c.438A>T
|
ENSP00000343034.7:p.Ala146=
|
|
|
ENST00000404875.7:n.709A>T
|
|
|
|
ENST00000423007.6:c.591A>T
|
ENSP00000404119.2:p.Ala197=
|
|
|
ENST00000462375.7:n.113-100A>T
|
|
|
|
ENST00000677295.2:c.*676A>T
|
ENSP00000504346.2:n.*676A>T
|
|
|
ENST00000678264.2:c.*783A>T
|
ENSP00000503157.2:n.*783A>T
|
|
|
ENST00000678942.2:c.295A>T
|
ENSP00000504690.2:p.Ser99Cys
|
|
|
ENST00000682070.1:n.797A>T
|
|
|
|
ENST00000682813.1:n.602A>T
|
|
|
|
ENST00000683134.1:c.61A>T
|
|
|
|
ENST00000683392.1:n.3084A>T
|
|
|
|
ENST00000683712.1:n.737A>T
|
|
|
|
ENST00000683900.1:n.1664A>T
|
|
|
|
ENST00000684062.1:n.909A>T
|
|
|
|
ENST00000684579.1:n.2178A>T
|
|
|
|
ENST00000341012.12:c.438A>T
|
ENSP00000343034.7:p.Ala146=
|
|
|
ENST00000372220.5:c.-145-2238A>T
|
ENSP00000361294.5:n.-145-2238A>T
|
|
|
ENST00000372228.9:c.600A>T
|
ENSP00000361302.3:p.Ala200=
|
|
|
ENST00000402686.8:c.600A>T
MANE Select
|
ENSP00000385797.4:p.Ala200=
|
|
|
ENST00000415075.6:c.*250-554A>T
|
ENSP00000405149.2:n.*250-554A>T
|
|
|
ENST00000430619.2:c.144A>T
|
ENSP00000402083.2:p.Ala48=
|
|
|
ENST00000462375.6:n.424A>T
|
|
|
|
ENST00000676640.1:c.600A>T
|
ENSP00000503281.1:p.Ala200=
|
|
|
ENST00000676803.1:c.-126-457A>T
|
ENSP00000503093.1:n.-126-457A>T
|
|
|
ENST00000676835.1:c.189-457A>T
|
ENSP00000502911.1:n.189-457A>T
|
|
|
ENST00000676915.1:c.453A>T
|
ENSP00000504628.1:p.Ala151=
|
|
|
ENST00000677028.1:c.*47A>T
|
ENSP00000503896.1:n.*47A>T
|
|
|
ENST00000677029.1:c.144A>T
|
ENSP00000502936.1:p.Ala48=
|
|
|
ENST00000677099.1:c.*310A>T
|
ENSP00000504553.1:n.*310A>T
|
|
|
ENST00000677216.1:c.249A>T
|
ENSP00000503772.1:p.Ala83=
|
|
|
ENST00000677293.1:c.-29-554A>T
|
ENSP00000504278.1:n.-29-554A>T
|
|
|
ENST00000677295.1:c.438A>T
|
ENSP00000504346.1:p.Ala146=
|
|
|
ENST00000677444.1:c.143A>T
|
|
|
|
ENST00000677586.1:n.181-457A>T
|
|
|
|
ENST00000677626.1:c.438A>T
|
ENSP00000503552.1:p.Ala146=
|
|
|
ENST00000677677.1:n.560A>T
|
|
|
|
ENST00000677729.1:c.*47A>T
|
ENSP00000503581.1:n.*47A>T
|
|
|
ENST00000677853.1:c.378-554A>T
|
ENSP00000503488.1:n.378-554A>T
|
|
|
ENST00000677944.1:c.59-554A>T
|
|
|
|
ENST00000678264.1:c.600A>T
|
ENSP00000503157.1:p.Ala200=
|
|
|
ENST00000678303.1:c.510A>T
|
ENSP00000503696.1:p.Ala170=
|
|
|
ENST00000678366.1:c.*783A>T
|
ENSP00000504353.1:n.*783A>T
|
|
|
ENST00000678546.1:c.438A>T
|
ENSP00000503062.1:p.Ala146=
|
|
|
ENST00000678548.1:c.*310A>T
|
ENSP00000503934.1:n.*310A>T
|
|
|
ENST00000678626.1:n.292A>T
|
|
|
|
ENST00000678693.1:n.283A>T
|
|
|
|
ENST00000678707.1:n.238A>T
|
|
|
|
ENST00000678739.1:c.*658A>T
|
ENSP00000503806.1:n.*658A>T
|
|
|
ENST00000678833.1:c.*47A>T
|
ENSP00000503893.1:n.*47A>T
|
|
|
ENST00000679023.1:c.438A>T
|
ENSP00000503718.1:p.Ala146=
|
|
|
ENST00000679076.1:c.311A>T
|
|
|
|
ENST00000679111.1:c.600A>T
|
ENSP00000504257.1:p.Ala200=
|
|
|
ENST00000679189.1:c.249A>T
|
ENSP00000503356.1:p.Ala83=
|
|
|
ENST00000341012.11:c.438A>T
|
ENSP00000343034.7:p.Ala146=
|
|
|
ENST00000372228.7:c.600A>T
|
ENSP00000361302.3:p.Ala200=
|
|
|
ENST00000402686.7:c.600A>T
|
ENSP00000385797.3:p.Ala200=
|
|
|
ENST00000404875.6:c.249A>T
|
ENSP00000384531.2:p.Ala83=
|
|
|
ENST00000415075.5:c.189-554A>T
|
ENSP00000405149.1:n.189-554A>T
|
|
|
ENST00000423007.5:c.600A>T
|
ENSP00000404119.1:p.Ala200=
|
|
|
ENST00000430619.1:c.249A>T
|
ENSP00000402083.1:p.Ala83=
|
|
|
ENST00000441334.5:c.249A>T
|
ENSP00000395060.1:p.Ala83=
|
|
|
ENST00000448212.5:c.438A>T
|
ENSP00000403736.1:p.Ala146=
|
|
|
ENST00000462375.5:n.158A>T
|
|
|
|
NM_001077365.1:c.600A>T
|
NP_001070833.1:p.Ala200=
|
|
|
NM_001077366.1:c.438A>T
|
NP_001070834.1:p.Ala146=
|
|
|
NM_001136113.1:c.600A>T
|
NP_001129585.1:p.Ala200=
|
|
|
NM_001136114.1:c.249A>T
|
NP_001129586.1:p.Ala83=
|
|
|
NM_007171.3:c.600A>T
|
NP_009102.3:p.Ala200=
|
|
|
XM_005272156.1:c.600A>T
|
XP_005272213.1:p.Ala200=
|
|
|
XM_005272158.1:c.438A>T
|
XP_005272215.1:p.Ala146=
|
|
|
XM_005272159.1:c.249A>T
|
XP_005272216.1:p.Ala83=
|
|
|
XM_005272162.1:c.-800A>T
|
XP_005272219.1:n.-800A>T
|
|
|
XM_006716932.1:c.249A>T
|
XP_006716995.1:p.Ala83=
|
|
|
XM_011518140.1:c.453A>T
|
XP_011516442.1:p.Ala151=
|
|
|
XM_011518141.1:c.453A>T
|
XP_011516443.1:p.Ala151=
|
|
|
XM_011518142.1:c.291A>T
|
XP_011516444.1:p.Ala97=
|
|
|
XM_011518143.1:c.346A>T
|
XP_011516445.1:p.Ser116Cys
|
|
|
XM_011518144.1:c.600A>T
|
XP_011516446.1:p.Ala200=
|
|
|
XM_011518145.1:c.144A>T
|
XP_011516447.1:p.Ala48=
|
|
|
XM_011518146.1:c.346A>T
|
XP_011516448.1:p.Ser116Cys
|
|
|
XR_929703.1:n.776A>T
|
|
|
|
NM_001353193.1:c.600A>T
|
NP_001340122.1:p.Ala200=
|
|
|
NM_001353194.1:c.438A>T
|
NP_001340123.1:p.Ala146=
|
|
|
NM_001353195.1:c.249A>T
|
NP_001340124.1:p.Ala83=
|
|
|
NM_001353196.1:c.510A>T
|
NP_001340125.1:p.Ala170=
|
|
|
NM_001353197.1:c.438A>T
|
NP_001340126.1:p.Ala146=
|
|
|
NM_001353198.1:c.438A>T
|
NP_001340127.1:p.Ala146=
|
|
|
NM_001353199.1:c.249A>T
|
NP_001340128.1:p.Ala83=
|
|
|
NM_001353200.1:c.144A>T
|
NP_001340129.1:p.Ala48=
|
|
|
NR_148391.1:n.650A>T
|
|
|
|
NR_148392.1:n.802A>T
|
|
|
|
NR_148393.1:n.650A>T
|
|
|
|
NR_148394.1:n.538A>T
|
|
|
|
NR_148395.1:n.802A>T
|
|
|
|
NR_148396.1:n.431A>T
|
|
|
|
NR_148397.1:n.695A>T
|
|
|
|
NR_148398.1:n.650A>T
|
|
|
|
NR_148399.1:n.1042A>T
|
|
|
|
NR_148400.1:n.636A>T
|
|
|
|
XM_005272162.3:c.-800A>T
|
XP_005272219.1:n.-800A>T
|
|
|
XM_006716932.2:c.249A>T
|
XP_006716995.1:p.Ala83=
|
|
|
XM_011518140.2:c.453A>T
|
XP_011516442.1:p.Ala151=
|
|
|
XM_011518141.2:c.453A>T
|
XP_011516443.1:p.Ala151=
|
|
|
XM_011518142.2:c.291A>T
|
XP_011516444.1:p.Ala97=
|
|
|
XM_011518143.2:c.346A>T
|
XP_011516445.1:p.Ser116Cys
|
|
|
XM_011518145.2:c.144A>T
|
XP_011516447.1:p.Ala48=
|
|
|
XM_017014205.2:c.-603A>T
|
XP_016869694.1:n.-603A>T
|
|
|
XM_024447380.1:c.-537A>T
|
XP_024303148.1:n.-537A>T
|
|
|
XM_024447381.1:c.-489A>T
|
XP_024303149.1:n.-489A>T
|
|
|
XM_024447382.1:c.-800A>T
|
XP_024303150.1:n.-800A>T
|
|
|
XR_001746160.2:n.770A>T
|
|
|
|
XR_001746162.2:n.770A>T
|
|
|
|
XR_001746164.1:n.548A>T
|
|
|
|
XR_001746166.2:n.724A>T
|
|
|
|
NM_001077365.2:c.600A>T
MANE Select
|
NP_001070833.1:p.Ala200=
|
|
|
NM_001077366.2:c.438A>T
|
NP_001070834.1:p.Ala146=
|
|
|
NM_001136113.2:c.600A>T
|
NP_001129585.1:p.Ala200=
|
|
|
NM_001136114.2:c.249A>T
|
NP_001129586.1:p.Ala83=
|
|
|
NM_001353193.2:c.600A>T
|
NP_001340122.2:p.Ala200=
|
|
|
NM_001353194.2:c.438A>T
|
NP_001340123.1:p.Ala146=
|
|
|
NM_001353195.2:c.249A>T
|
NP_001340124.1:p.Ala83=
|
|
|
NM_001353196.2:c.510A>T
|
NP_001340125.1:p.Ala170=
|
|
|
NM_001353197.2:c.438A>T
|
NP_001340126.2:p.Ala146=
|
|
|
NM_001353198.2:c.438A>T
|
NP_001340127.2:p.Ala146=
|
|
|
NM_001353199.2:c.249A>T
|
NP_001340128.2:p.Ala83=
|
|
|
NM_001353200.2:c.144A>T
|
NP_001340129.1:p.Ala48=
|
|
|
NM_001374689.1:c.438A>T
|
NP_001361618.1:p.Ala146=
|
|
|
NM_001374690.1:c.600A>T
|
NP_001361619.1:p.Ala200=
|
|
|
NM_001374691.1:c.249A>T
|
NP_001361620.1:p.Ala83=
|
|
|
NM_001374692.1:c.249A>T
|
NP_001361621.1:p.Ala83=
|
|
|
NM_001374693.1:c.438A>T
|
NP_001361622.1:p.Ala146=
|
|
|
NM_001374695.1:c.144A>T
|
NP_001361624.1:p.Ala48=
|
|
|
NM_007171.4:c.600A>T
|
NP_009102.4:p.Ala200=
|
|
|
NR_148391.2:n.634A>T
|
|
|
|
NR_148392.2:n.786A>T
|
|
|
|
NR_148393.2:n.634A>T
|
|
|
|
NR_148394.2:n.522A>T
|
|
|
|
NR_148395.2:n.786A>T
|
|
|
|
NR_148396.2:n.415A>T
|
|
|
|
NR_148397.2:n.679A>T
|
|
|
|
NR_148398.2:n.634A>T
|
|
|
|
NR_148399.2:n.1026A>T
|
|
|
|
NR_148400.2:n.620A>T
|
|
|
