| 
                  NM_005060.4:c.1120C>T
                    
                              MANE Select
                      
               | 
              
                  
                    NP_005051.2:p.Arg374Cys
                      
                  
               | 
            
            
              | 
                  ENST00000318247.7:c.1120C>T
                    
                        MANE Select
                      
               | 
              
                  
                    ENSP00000327025.6:p.Arg374Cys
                      
                  
               | 
            
            
              | 
                  NM_001001523.1:c.1057C>T
               | 
              
                  
                    NP_001001523.1:p.Arg353Cys
                      
                  
               | 
            
            
              | 
                  NM_001001523.2:c.1057C>T
               | 
              
                  
                    NP_001001523.1:p.Arg353Cys
                      
                  
               | 
            
            
              | 
                  NM_005060.3:c.1120C>T
               | 
              
                  
                    NP_005051.2:p.Arg374Cys
                      
                  
               | 
            
            
              | 
                  ENST00000318247.6:c.1120C>T
               | 
              
                  
                    ENSP00000327025.6:p.Arg374Cys
                      
                  
               | 
            
            
              | 
                  ENST00000356728.10:c.1057C>T
               | 
              
                  
                    ENSP00000349164.6:p.Arg353Cys
                      
                  
               | 
            
            
              | 
                  ENST00000356728.11:c.1057C>T
               | 
              
                  
                    ENSP00000349164.6:p.Arg353Cys
                      
                  
               | 
            
            
              | 
                  ENST00000480719.1:n.1497C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000638901.1:c.1311C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000651814.1:c.*77C>T
               | 
              
                  
                    ENSP00000498691.1:n.*77C>T
                  
               | 
            
            
              | 
                  ENST00000651893.1:c.397C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000652040.2:c.835C>T
               | 
              
                  
                    ENSP00000498548.2:p.Arg279Cys
                      
                  
               | 
            
            
              | 
                  ENST00000697811.1:c.933+1281C>T
               | 
              
                  
                    ENSP00000513447.1:n.933+1281C>T
                  
               | 
            
            
              | 
                  ENST00000697812.1:n.258C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000697813.1:n.1115C>T
               | 
              
                  
               | 
            
            
              | 
                  XM_006711484.2:c.1519C>T
               | 
              
                  
                    XP_006711547.2:p.Arg507Cys
                      
                  
               | 
            
            
              | 
                  XM_006711484.4:c.1519C>T
               | 
              
                  
                    XP_006711547.2:p.Arg507Cys
                      
                  
               | 
            
            
              | 
                  XR_426792.2:n.1881C>T
               | 
              
                  
               |