|
ENST00000556892.6:c.229C>A
|
ENSP00000452206.2:p.Gln77Lys
|
|
|
ENST00000556979.6:c.*901C>A
|
ENSP00000452378.1:n.*901C>A
|
|
|
ENST00000358664.9:c.448C>A
MANE Select
|
ENSP00000351490.4:p.Gln150Lys
|
|
|
ENST00000651648.1:c.145-6142C>A
|
ENSP00000498863.1:n.145-6142C>A
|
|
|
ENST00000284165.10:c.*1292C>A
|
ENSP00000284165.6:n.*1292C>A
|
|
|
ENST00000341653.6:c.171+17197C>A
|
ENSP00000342482.2:n.171+17197C>A
|
|
|
ENST00000358402.8:c.421C>A
|
ENSP00000351175.4:p.Gln141Lys
|
|
|
ENST00000358664.8:c.448C>A
|
ENSP00000351490.4:p.Gln150Lys
|
|
|
ENST00000394606.6:c.*221C>A
|
ENSP00000378104.2:n.*221C>A
|
|
|
ENST00000553928.5:c.*237C>A
|
ENSP00000451907.1:n.*237C>A
|
|
|
ENST00000555419.5:c.340C>A
|
ENSP00000452405.1:p.Gln114Lys
|
|
|
ENST00000555932.5:c.189C>A
|
ENSP00000450763.1:p.Pro63=
|
|
|
ENST00000557277.5:c.259C>A
|
ENSP00000450955.1:p.Gln87Lys
|
|
|
ENST00000618858.4:c.*237C>A
|
ENSP00000480127.1:n.*237C>A
|
|
|
NM_001271069.1:c.144+17197C>A
|
NP_001257998.1:n.144+17197C>A
|
|
|
NM_002382.4:c.448C>A
|
NP_002373.3:p.Gln150Lys
|
|
|
NM_145112.2:c.421C>A
|
NP_660087.1:p.Gln141Lys
|
|
|
NM_145113.2:c.*237C>A
|
NP_660088.1:n.*237C>A
|
|
|
NM_197957.3:c.171+17197C>A
|
NP_932061.1:n.171+17197C>A
|
|
|
NR_073137.1:n.572C>A
|
|
|
|
XR_429315.2:n.735C>A
|
|
|
|
NM_001320415.1:c.259C>A
|
NP_001307344.1:p.Gln87Lys
|
|
|
XM_017021312.2:c.259C>A
|
XP_016876801.1:p.Gln87Lys
|
|
|
XM_017021313.1:c.259C>A
|
XP_016876802.1:p.Gln87Lys
|
|
|
XR_001750326.2:n.793C>A
|
|
|
|
XR_001750327.2:n.712C>A
|
|
|
|
XR_002957553.1:n.1226C>A
|
|
|
|
XR_943450.3:n.816C>A
|
|
|
|
XR_943451.3:n.832C>A
|
|
|
|
XR_943452.3:n.777C>A
|
|
|
|
NM_001320415.2:c.259C>A
|
NP_001307344.1:p.Gln87Lys
|
|
|
NM_002382.5:c.448C>A
MANE Select
|
NP_002373.3:p.Gln150Lys
|
|
|
NM_145112.3:c.421C>A
|
NP_660087.1:p.Gln141Lys
|
|
|
NM_145113.3:c.*237C>A
|
NP_660088.1:n.*237C>A
|
|
|
NM_001271069.2:c.144+17197C>A
|
NP_001257998.1:n.144+17197C>A
|
|
|
NM_197957.4:c.171+17197C>A
|
NP_932061.1:n.171+17197C>A
|
|
