| NM_000484.4:c.2160G>C
                    
                              MANE Select | NP_000475.1:p.Leu720Phe | 
            
              | ENST00000346798.8:c.2160G>C
                    
                        MANE Select | ENSP00000284981.4:p.Leu720Phe | 
            
              | NM_000484.3:c.2160G>C | NP_000475.1:p.Leu720Phe | 
            
              | NM_001136016.3:c.2088G>C | NP_001129488.1:p.Leu696Phe | 
            
              | NM_001136129.2:c.1767G>C | NP_001129601.1:p.Leu589Phe | 
            
              | NM_001136129.3:c.1767G>C | NP_001129601.1:p.Leu589Phe | 
            
              | NM_001136130.2:c.1992G>C | NP_001129602.1:p.Leu664Phe | 
            
              | NM_001136130.3:c.1992G>C | NP_001129602.1:p.Leu664Phe | 
            
              | NM_001136131.2:c.1830G>C | NP_001129603.1:p.Leu610Phe | 
            
              | NM_001136131.3:c.1830G>C | NP_001129603.1:p.Leu610Phe | 
            
              | NM_001204301.1:c.2106G>C | NP_001191230.1:p.Leu702Phe | 
            
              | NM_001204301.2:c.2106G>C | NP_001191230.1:p.Leu702Phe | 
            
              | NM_001204302.1:c.2049G>C | NP_001191231.1:p.Leu683Phe | 
            
              | NM_001204302.2:c.2049G>C | NP_001191231.1:p.Leu683Phe | 
            
              | NM_001204303.1:c.1881G>C | NP_001191232.1:p.Leu627Phe | 
            
              | NM_001204303.2:c.1881G>C | NP_001191232.1:p.Leu627Phe | 
            
              | NM_001385253.1:c.1992G>C | NP_001372182.1:p.Leu664Phe | 
            
              | NM_201413.2:c.2103G>C | NP_958816.1:p.Leu701Phe | 
            
              | NM_201413.3:c.2103G>C | NP_958816.1:p.Leu701Phe | 
            
              | NM_201414.2:c.1935G>C | NP_958817.1:p.Leu645Phe | 
            
              | NM_201414.3:c.1935G>C | NP_958817.1:p.Leu645Phe | 
            
              | ENST00000346798.7:c.2160G>C | ENSP00000284981.4:p.Leu720Phe | 
            
              | ENST00000348990.9:c.1935G>C | ENSP00000345463.5:p.Leu645Phe | 
            
              | ENST00000354192.7:c.1767G>C | ENSP00000346129.3:p.Leu589Phe | 
            
              | ENST00000357903.7:c.2103G>C | ENSP00000350578.3:p.Leu701Phe | 
            
              | ENST00000358918.7:c.2106G>C | ENSP00000351796.3:p.Leu702Phe | 
            
              | ENST00000359726.7:c.1830G>C | ENSP00000352760.4:p.Leu610Phe | 
            
              | ENST00000439274.6:c.1992G>C | ENSP00000398879.2:p.Leu664Phe | 
            
              | ENST00000440126.7:c.2088G>C | ENSP00000387483.2:p.Leu696Phe | 
            
              | ENST00000464867.1:n.507G>C |  | 
            
              | ENST00000707132.1:n.2127G>C |  | 
            
              | ENST00000707133.1:n.557G>C |  | 
            
              | ENST00000707134.1:n.826G>C |  |