|
ENST00000482632.6:n.1467C>T
|
|
|
|
ENST00000686600.1:c.1057C>T
|
ENSP00000509268.1:p.Leu353Phe
|
|
|
ENST00000686799.1:n.1154C>T
|
|
|
|
ENST00000687427.1:c.1057C>T
|
ENSP00000509426.1:p.Leu353Phe
|
|
|
ENST00000687817.1:c.*1204C>T
|
ENSP00000508926.1:n.*1204C>T
|
|
|
ENST00000687972.1:c.1117C>T
|
ENSP00000509208.1:p.Leu373Phe
|
|
|
ENST00000689261.1:n.964C>T
|
|
|
|
ENST00000689401.1:c.*1307C>T
|
ENSP00000510251.1:n.*1307C>T
|
|
|
ENST00000689423.1:c.*1307C>T
|
ENSP00000508519.1:n.*1307C>T
|
|
|
ENST00000690095.1:n.1385C>T
|
|
|
|
ENST00000690139.1:c.*758C>T
|
ENSP00000510483.1:n.*758C>T
|
|
|
ENST00000692458.1:n.1424C>T
|
|
|
|
ENST00000693147.1:c.*1073C>T
|
ENSP00000510358.1:n.*1073C>T
|
|
|
ENST00000262554.7:c.1057C>T
MANE Select
|
ENSP00000262554.2:p.Leu353Phe
|
|
|
ENST00000642671.1:c.1298C>T
|
ENSP00000495764.1:n.1298C>T
|
|
|
ENST00000643599.1:c.1125C>T
|
ENSP00000494770.1:n.1125C>T
|
|
|
ENST00000644140.1:c.*798C>T
|
ENSP00000493933.1:n.*798C>T
|
|
|
ENST00000646481.1:c.929C>T
|
ENSP00000496627.1:n.929C>T
|
|
|
ENST00000646534.1:c.*860C>T
|
ENSP00000495388.1:n.*860C>T
|
|
|
ENST00000262554.6:c.1057C>T
|
ENSP00000262554.2:p.Leu353Phe
|
|
|
NM_001281303.1:c.1057C>T
|
NP_001268232.1:p.Leu353Phe
|
|
|
NM_006415.3:c.1057C>T
|
NP_006406.1:p.Leu353Phe
|
|
|
XM_011518138.1:c.1057C>T
|
XP_011516440.1:p.Leu353Phe
|
|
|
XM_011518139.1:c.592C>T
|
XP_011516441.1:p.Leu198Phe
|
|
|
XM_011518138.2:c.1057C>T
|
XP_011516440.1:p.Leu353Phe
|
|
|
XM_011518139.3:c.592C>T
|
XP_011516441.1:p.Leu198Phe
|
|
|
XM_017014200.2:c.691C>T
|
XP_016869689.1:p.Leu231Phe
|
|
|
XM_017014201.2:c.691C>T
|
XP_016869690.1:p.Leu231Phe
|
|
|
XM_024447378.1:c.592C>T
|
XP_024303146.1:p.Leu198Phe
|
|
|
XM_024447379.1:c.592C>T
|
XP_024303147.1:p.Leu198Phe
|
|
|
XR_002956744.1:n.1207C>T
|
|
|
|
NM_006415.4:c.1057C>T
MANE Select
|
NP_006406.1:p.Leu353Phe
|
|
|
NM_001281303.2:c.1057C>T
|
NP_001268232.1:p.Leu353Phe
|
|
|
NM_001368272.1:c.691C>T
|
NP_001355201.1:p.Leu231Phe
|
|
|
NM_001368273.1:c.592C>T
|
NP_001355202.1:p.Leu198Phe
|
|
