| 
                  NM_000965.5:c.683G>T
                    
                              MANE Select
                      
               | 
              
                  
                    NP_000956.2:p.Cys228Phe
                      
                  
               | 
            
            
              | 
                  ENST00000330688.9:c.683G>T
                    
                        MANE Select
                      
               | 
              
                  
                    ENSP00000332296.4:p.Cys228Phe
                      
                  
               | 
            
            
              | 
                  NM_000965.4:c.683G>T
               | 
              
                  
                    NP_000956.2:p.Cys228Phe
                      
                  
               | 
            
            
              | 
                  NM_001290216.1:c.704G>T
               | 
              
                  
                    NP_001277145.1:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  NM_001290216.2:c.704G>T
               | 
              
                  
                    NP_001277145.1:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  NM_001290216.3:c.704G>T
               | 
              
                  
                    NP_001277145.1:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  NM_001290217.1:c.347G>T
               | 
              
                  
                    NP_001277146.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  NM_001290217.2:c.347G>T
               | 
              
                  
                    NP_001277146.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  NM_001290266.1:c.536G>T
               | 
              
                  
                    NP_001277195.1:p.Cys179Phe
                      
                  
               | 
            
            
              | 
                  NM_001290266.2:c.536G>T
               | 
              
                  
                    NP_001277195.1:p.Cys179Phe
                      
                  
               | 
            
            
              | 
                  NM_001290276.1:c.347G>T
               | 
              
                  
                    NP_001277205.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  NM_001290276.2:c.347G>T
               | 
              
                  
                    NP_001277205.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  NM_001290277.1:c.683G>T
               | 
              
                  
                    NP_001277206.1:p.Cys228Phe
                      
                  
               | 
            
            
              | 
                  NM_001290300.1:c.554G>T
               | 
              
                  
                    NP_001277229.1:p.Cys185Phe
                      
                  
               | 
            
            
              | 
                  NM_001290300.2:c.554G>T
               | 
              
                  
                    NP_001277229.1:p.Cys185Phe
                      
                  
               | 
            
            
              | 
                  NM_016152.3:c.347G>T
               | 
              
                  
                    NP_057236.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  NM_016152.4:c.347G>T
               | 
              
                  
                    NP_057236.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  NR_110892.1:n.991G>T
               | 
              
                  
               | 
            
            
              | 
                  NR_110892.2:n.991G>T
               | 
              
                  
               | 
            
            
              | 
                  NR_110893.1:n.1152G>T
               | 
              
                  
               | 
            
            
              | 
                  NR_110893.2:n.1152G>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000330688.8:c.683G>T
               | 
              
                  
                    ENSP00000332296.4:p.Cys228Phe
                      
                  
               | 
            
            
              | 
                  ENST00000383772.8:c.704G>T
               | 
              
                  
                    ENSP00000373282.4:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  ENST00000383772.9:c.704G>T
               | 
              
                  
                    ENSP00000373282.5:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  ENST00000437042.6:c.347G>T
               | 
              
                  
                    ENSP00000398840.2:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  ENST00000437042.7:c.347G>T
               | 
              
                  
                    ENSP00000398840.2:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  ENST00000458646.1:c.347G>T
               | 
              
                  
                    ENSP00000391391.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  ENST00000458646.2:c.347G>T
               | 
              
                  
                    ENSP00000391391.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  ENST00000462272.5:n.699G>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000462272.6:n.628G>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000479097.5:n.538G>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000479097.6:c.*72G>T
               | 
              
                  
                    ENSP00000508755.1:n.*72G>T
                  
               | 
            
            
              | 
                  ENST00000480001.5:n.699G>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000480001.6:c.683G>T
               | 
              
                  
                    ENSP00000510647.1:p.Cys228Phe
                      
                  
               | 
            
            
              | 
                  ENST00000685523.1:c.*519G>T
               | 
              
                  
                    ENSP00000508765.1:n.*519G>T
                  
               | 
            
            
              | 
                  ENST00000686715.1:c.704G>T
               | 
              
                  
                    ENSP00000510539.1:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  ENST00000687083.1:c.683G>T
               | 
              
                  
                    ENSP00000509681.1:p.Cys228Phe
                      
                  
               | 
            
            
              | 
                  ENST00000687353.1:c.704G>T
               | 
              
                  
                    ENSP00000508588.1:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  ENST00000687676.1:c.704G>T
               | 
              
                  
                    ENSP00000510313.1:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  ENST00000688892.1:c.704G>T
               | 
              
                  
                    ENSP00000510650.1:p.Cys235Phe
                      
                  
               | 
            
            
              | 
                  ENST00000689700.1:c.377G>T
               | 
              
                  
                    ENSP00000510200.1:p.Cys126Phe
                      
                  
               | 
            
            
              | 
                  ENST00000690398.1:c.*298G>T
               | 
              
                  
                    ENSP00000510044.1:n.*298G>T
                  
               | 
            
            
              | 
                  ENST00000691580.1:c.512G>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000691912.1:c.683G>T
               | 
              
                  
                    ENSP00000510520.1:p.Cys228Phe
                      
                  
               | 
            
            
              | 
                  ENST00000693261.1:c.347G>T
               | 
              
                  
                    ENSP00000508421.1:p.Cys116Phe
                      
                  
               | 
            
            
              | 
                  ENST00000693580.1:c.303+10701G>T
               | 
              
                  
                    ENSP00000510405.1:n.303+10701G>T
                  
               |