| NM_016341.4:c.5245A>T
                    
                              MANE Select | NP_057425.3:p.Ile1749Phe | 
            
              | ENST00000371380.8:c.5245A>T
                    
                        MANE Select | ENSP00000360431.2:p.Ile1749Phe | 
            
              | NM_001165979.2:c.4321A>T | NP_001159451.1:p.Ile1441Phe | 
            
              | NM_001288989.1:c.5197A>T | NP_001275918.1:p.Ile1733Phe | 
            
              | NM_001288989.2:c.5197A>T | NP_001275918.1:p.Ile1733Phe | 
            
              | NM_016341.3:c.5245A>T | NP_057425.3:p.Ile1749Phe | 
            
              | ENST00000260766.7:c.5245A>T | ENSP00000260766.3:p.Ile1749Phe | 
            
              | ENST00000371375.1:c.4321A>T | ENSP00000360426.1:p.Ile1441Phe | 
            
              | ENST00000371375.2:c.4321A>T | ENSP00000360426.1:p.Ile1441Phe | 
            
              | ENST00000371380.7:c.5245A>T | ENSP00000360431.2:p.Ile1749Phe | 
            
              | ENST00000371385.7:c.4321A>T | ENSP00000360438.3:p.Ile1441Phe | 
            
              | ENST00000371385.8:c.4219A>T | ENSP00000360438.4:p.Ile1407Phe | 
            
              | ENST00000674738.1:c.3800A>T |  | 
            
              | ENST00000674827.1:c.3361A>T | ENSP00000502523.1:p.Ile1121Phe | 
            
              | ENST00000675218.1:c.4321A>T | ENSP00000501910.1:p.Ile1441Phe | 
            
              | ENST00000675487.1:c.*1178A>T | ENSP00000502340.1:n.*1178A>T | 
            
              | ENST00000675718.1:c.4514A>T |  | 
            
              | ENST00000676102.1:c.4090A>T | ENSP00000502811.1:p.Ile1364Phe | 
            
              | ENST00000685253.1:c.*1788A>T | ENSP00000509405.1:n.*1788A>T | 
            
              | ENST00000685889.1:n.1980A>T |  | 
            
              | ENST00000686807.1:n.664A>T |  | 
            
              | ENST00000686954.1:c.*529A>T | ENSP00000508416.1:n.*529A>T | 
            
              | ENST00000688810.1:c.4273A>T | ENSP00000509140.1:p.Ile1425Phe | 
            
              | ENST00000689233.1:n.9453A>T |  | 
            
              | ENST00000690340.1:n.2918A>T |  | 
            
              | ENST00000692286.1:c.5113A>T | ENSP00000509490.1:p.Ile1705Phe | 
            
              | ENST00000692396.1:c.5197A>T | ENSP00000508605.1:p.Ile1733Phe | 
            
              | XM_006717885.2:c.5287A>T | XP_006717948.1:p.Ile1763Phe | 
            
              | XM_006717885.4:c.5287A>T | XP_006717948.1:p.Ile1763Phe | 
            
              | XM_006717886.2:c.5287A>T | XP_006717949.1:p.Ile1763Phe | 
            
              | XM_006717888.2:c.5284A>T | XP_006717951.1:p.Ile1762Phe | 
            
              | XM_006717888.4:c.5284A>T | XP_006717951.1:p.Ile1762Phe | 
            
              | XM_006717889.2:c.5239A>T | XP_006717952.1:p.Ile1747Phe | 
            
              | XM_006717889.4:c.5239A>T | XP_006717952.1:p.Ile1747Phe | 
            
              | XM_006717890.1:c.4363A>T | XP_006717953.1:p.Ile1455Phe | 
            
              | XM_006717890.3:c.4363A>T | XP_006717953.1:p.Ile1455Phe | 
            
              | XM_011539849.1:c.5287A>T | XP_011538151.1:p.Ile1763Phe | 
            
              | XM_011539849.3:c.5287A>T | XP_011538151.1:p.Ile1763Phe | 
            
              | XM_011539850.1:c.4132A>T | XP_011538152.1:p.Ile1378Phe | 
            
              | XM_011539850.3:c.4132A>T | XP_011538152.1:p.Ile1378Phe | 
            
              | XM_017016310.2:c.5287A>T | XP_016871799.1:p.Ile1763Phe | 
            
              | XM_017016311.2:c.5287A>T | XP_016871800.1:p.Ile1763Phe | 
            
              | XM_017016312.2:c.4273A>T | XP_016871801.1:p.Ile1425Phe |