ENST00000686600.1:c.*88G>A
|
ENSP00000509268.1:n.*88G>A
|
|
ENST00000686799.1:n.1700G>A
|
|
|
ENST00000687427.1:c.*132G>A
|
ENSP00000509426.1:n.*132G>A
|
|
ENST00000687817.1:c.*3774G>A
|
ENSP00000508926.1:n.*3774G>A
|
|
ENST00000687972.1:c.1436G>A
|
ENSP00000509208.1:p.Arg479Lys
|
|
ENST00000689261.1:n.1283G>A
|
|
|
ENST00000689401.1:c.*1626G>A
|
ENSP00000510251.1:n.*1626G>A
|
|
ENST00000690095.1:n.1764G>A
|
|
|
ENST00000690139.1:c.*1077G>A
|
ENSP00000510483.1:n.*1077G>A
|
|
ENST00000692458.1:n.2014G>A
|
|
|
ENST00000262554.7:c.1376G>A
MANE Select
|
ENSP00000262554.2:p.Arg459Lys
|
|
ENST00000642671.1:c.1629+2299G>A
|
ENSP00000495764.1:n.1629+2299G>A
|
|
ENST00000643599.1:c.1396+2299G>A
|
ENSP00000494770.1:n.1396+2299G>A
|
|
ENST00000644140.1:c.*1117G>A
|
ENSP00000493933.1:n.*1117G>A
|
|
ENST00000646481.1:c.1260+2299G>A
|
ENSP00000496627.1:n.1260+2299G>A
|
|
ENST00000646534.1:c.*1179G>A
|
ENSP00000495388.1:n.*1179G>A
|
|
ENST00000262554.6:c.1376G>A
|
ENSP00000262554.2:p.Arg459Lys
|
|
ENST00000469778.1:n.333G>A
|
|
|
NM_001281303.1:c.1344G>A
|
NP_001268232.1:p.Glu448=
|
|
NM_006415.3:c.1376G>A
|
NP_006406.1:p.Arg459Lys
|
|
XM_011518139.1:c.911G>A
|
XP_011516441.1:p.Arg304Lys
|
|
XM_011518139.3:c.911G>A
|
XP_011516441.1:p.Arg304Lys
|
|
XM_017014200.2:c.1010G>A
|
XP_016869689.1:p.Arg337Lys
|
|
XM_017014201.2:c.1010G>A
|
XP_016869690.1:p.Arg337Lys
|
|
XM_024447378.1:c.911G>A
|
XP_024303146.1:p.Arg304Lys
|
|
XM_024447379.1:c.911G>A
|
XP_024303147.1:p.Arg304Lys
|
|
XR_002956744.1:n.1526G>A
|
|
|
NM_006415.4:c.1376G>A
MANE Select
|
NP_006406.1:p.Arg459Lys
|
|
NM_001281303.2:c.1344G>A
|
NP_001268232.1:p.Glu448=
|
|
NM_001368272.1:c.1010G>A
|
NP_001355201.1:p.Arg337Lys
|
|
NM_001368273.1:c.911G>A
|
NP_001355202.1:p.Arg304Lys
|
|