| 
                  NM_003754.3:c.916C>T
                    
                              MANE Select
                      
               | 
              
                  
                    NP_003745.1:p.Arg306Cys
                      
                  
               | 
            
            
              | 
                  ENST00000651655.1:c.916C>T
                    
                        MANE Select
                      
               | 
              
                  
                    ENSP00000499218.1:p.Arg306Cys
                      
                  
               | 
            
            
              | 
                  NM_003754.2:c.916C>T
               | 
              
                  
                    NP_003745.1:p.Arg306Cys
                      
                  
               | 
            
            
              | 
                  ENST00000309828.4:c.916C>T
               | 
              
                  
                    ENSP00000310040.4:p.Arg306Cys
                      
                  
               | 
            
            
              | 
                  ENST00000528653.2:n.1385C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000528763.1:n.455C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000528763.2:n.1135C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000530219.1:n.1228C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000530219.2:n.716C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000531329.5:c.*470C>T
               | 
              
                  
                    ENSP00000432489.1:n.*470C>T
                  
               | 
            
            
              | 
                  ENST00000531329.6:c.*360C>T
               | 
              
                  
                    ENSP00000432489.2:n.*360C>T
                  
               | 
            
            
              | 
                  ENST00000531572.1:c.139C>T
               | 
              
                  
                    ENSP00000434286.1:p.Arg47Cys
                      
                  
               | 
            
            
              | 
                  ENST00000531572.2:c.916C>T
               | 
              
                  
                    ENSP00000434286.2:p.Arg306Cys
                      
                  
               | 
            
            
              | 
                  ENST00000532882.2:n.2285C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000533626.5:c.916C>T
               | 
              
                  
                    ENSP00000431800.1:p.Arg306Cys
                      
                  
               | 
            
            
              | 
                  ENST00000640290.2:c.*517C>T
               | 
              
                  
                    ENSP00000491198.2:n.*517C>T
                  
               | 
            
            
              | 
                  ENST00000677121.1:c.*394C>T
               | 
              
                  
                    ENSP00000503130.1:n.*394C>T
                  
               | 
            
            
              | 
                  ENST00000677179.1:n.5208C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000677795.1:n.3086C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000677866.1:n.1961C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000678132.1:c.*517C>T
               | 
              
                  
                    ENSP00000504073.1:n.*517C>T
                  
               | 
            
            
              | 
                  ENST00000678993.1:c.*470C>T
               | 
              
                  
                    ENSP00000504201.1:n.*470C>T
                  
               |