|
ENST00000469238.2:n.1700T>A
|
|
|
|
ENST00000491241.2:c.*537T>A
|
ENSP00000512049.1:n.*537T>A
|
|
|
ENST00000550338.6:c.*537T>A
|
ENSP00000450008.1:n.*537T>A
|
|
|
ENST00000695598.1:n.1687T>A
|
|
|
|
ENST00000695599.1:c.*5430T>A
|
ENSP00000512046.1:n.*5430T>A
|
|
|
ENST00000695600.1:n.1862T>A
|
|
|
|
ENST00000695601.1:c.*537T>A
|
ENSP00000512047.1:n.*537T>A
|
|
|
ENST00000695602.1:c.*537T>A
|
ENSP00000512048.1:n.*537T>A
|
|
|
ENST00000695603.1:n.1700T>A
|
|
|
|
ENST00000695604.1:c.*354T>A
|
ENSP00000512050.1:n.*354T>A
|
|
|
ENST00000354858.11:c.422T>A
|
ENSP00000346921.7:p.Leu141Ter
|
|
|
ENST00000373449.7:c.548T>A
|
ENSP00000362548.2:p.Leu183Ter
|
|
|
ENST00000672308.1:n.583T>A
|
|
|
|
ENST00000672715.1:c.548T>A
MANE Select
|
ENSP00000499935.1:p.Leu183Ter
|
|
|
ENST00000354858.10:c.548T>A
|
ENSP00000346921.6:p.Leu183Ter
|
|
|
ENST00000373449.6:c.548T>A
|
ENSP00000362548.2:p.Leu183Ter
|
|
|
ENST00000467905.5:c.548T>A
|
ENSP00000447082.1:p.Leu183Ter
|
|
|
ENST00000480134.5:c.*51T>A
|
ENSP00000450109.1:n.*51T>A
|
|
|
ENST00000548033.5:c.422T>A
|
ENSP00000449003.1:p.Leu141Ter
|
|
|
ENST00000550338.5:c.*537T>A
|
ENSP00000450008.1:n.*537T>A
|
|
|
ENST00000629371.2:c.*51T>A
|
ENSP00000486507.1:n.*51T>A
|
|
|
NM_001199199.1:c.524T>A
|
NP_001186128.1:p.Leu175Ter
|
|
|
NM_001625.3:c.548T>A
|
NP_001616.1:p.Leu183Ter
|
|
|
NM_013411.4:c.548T>A
|
NP_037543.1:p.Leu183Ter
|
|
|
NR_037591.1:n.749T>A
|
|
|
|
NR_037592.1:n.749T>A
|
|
|
|
XM_011540967.1:c.*51T>A
|
XP_011539269.1:n.*51T>A
|
|
|
XR_246248.1:n.588T>A
|
|
|
|
XR_946575.1:n.493T>A
|
|
|
|
NM_001319139.1:c.404T>A
|
NP_001306068.1:p.Leu135Ter
|
|
|
NM_001319140.1:c.404T>A
|
NP_001306069.1:p.Leu135Ter
|
|
|
NM_001319141.1:c.548T>A
|
NP_001306070.1:p.Leu183Ter
|
|
|
NM_001319142.1:c.422T>A
|
NP_001306071.1:p.Leu141Ter
|
|
|
NM_001319143.1:c.*51T>A
|
NP_001306072.1:n.*51T>A
|
|
|
NR_134976.1:n.536T>A
|
|
|
|
XR_001737036.1:n.493T>A
|
|
|
|
XR_246248.2:n.588T>A
|
|
|
|
NM_001199199.2:c.524T>A
|
NP_001186128.1:p.Leu175Ter
|
|
|
NM_001319139.2:c.404T>A
|
NP_001306068.1:p.Leu135Ter
|
|
|
NM_001319141.2:c.548T>A
|
NP_001306070.1:p.Leu183Ter
|
|
|
NM_001319142.2:c.422T>A
|
NP_001306071.1:p.Leu141Ter
|
|
|
NM_001625.4:c.548T>A
MANE Select
|
NP_001616.1:p.Leu183Ter
|
|
|
NM_013411.5:c.548T>A
|
NP_037543.1:p.Leu183Ter
|
|
|
NR_134976.2:n.508T>A
|
|
|
|
NM_001199199.3:c.524T>A
|
NP_001186128.1:p.Leu175Ter
|
|
|
NM_001319139.3:c.404T>A
|
NP_001306068.1:p.Leu135Ter
|
|
|
NM_001319140.2:c.404T>A
|
NP_001306069.1:p.Leu135Ter
|
|
|
NM_001319141.3:c.548T>A
|
NP_001306070.1:p.Leu183Ter
|
|
|
NM_001319142.3:c.422T>A
|
NP_001306071.1:p.Leu141Ter
|
|
|
NM_001319143.2:c.*51T>A
|
NP_001306072.1:n.*51T>A
|
|
|
NR_134976.3:n.508T>A
|
|
|
