ENST00000445653.6:n.1054T>C
|
|
|
ENST00000524658.2:n.1035T>C
|
|
|
ENST00000530052.2:n.2041T>C
|
|
|
ENST00000682191.1:n.1501T>C
|
|
|
ENST00000682192.1:n.1198T>C
|
|
|
ENST00000682232.1:c.*623-176T>C
|
ENSP00000507302.1:n.*623-176T>C
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|
ENST00000682326.1:c.918-176T>C
|
ENSP00000508129.1:n.918-176T>C
|
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ENST00000682404.1:n.2097T>C
|
|
|
ENST00000682517.1:n.2400T>C
|
|
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ENST00000682652.1:n.2270T>C
|
|
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ENST00000682665.1:n.1696T>C
|
|
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ENST00000682691.1:n.1696T>C
|
|
|
ENST00000682791.1:c.909T>C
|
ENSP00000507312.1:p.Phe303=
|
|
ENST00000682811.1:c.*47T>C
|
ENSP00000508196.1:n.*47T>C
|
|
ENST00000682883.1:n.1032-176T>C
|
|
|
ENST00000682946.1:c.*78T>C
|
ENSP00000506856.1:n.*78T>C
|
|
ENST00000683143.1:c.*701T>C
|
ENSP00000507168.1:n.*701T>C
|
|
ENST00000683373.1:n.1501T>C
|
|
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ENST00000683558.1:n.1501T>C
|
|
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ENST00000683567.1:n.1105T>C
|
|
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ENST00000683955.1:n.1752T>C
|
|
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ENST00000684142.1:c.*671T>C
|
ENSP00000508008.1:n.*671T>C
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ENST00000684252.1:n.1393T>C
|
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ENST00000684255.1:c.*701T>C
|
ENSP00000507398.1:n.*701T>C
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|
ENST00000684315.1:n.1729T>C
|
|
|
ENST00000684345.1:c.*974T>C
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ENSP00000507163.1:n.*974T>C
|
|
ENST00000684499.1:c.*1101T>C
|
ENSP00000506800.1:n.*1101T>C
|
|
ENST00000684682.1:c.*727T>C
|
ENSP00000507326.1:n.*727T>C
|
|
ENST00000354202.9:c.996T>C
MANE Select
|
ENSP00000346142.4:p.Phe332=
|
|
ENST00000636404.1:c.233-410T>C
|
|
|
ENST00000638850.1:c.500T>C
|
|
|
ENST00000639704.1:c.903T>C
|
ENSP00000491336.1:p.Phe301=
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ENST00000640102.1:c.*649T>C
|
ENSP00000492027.1:n.*649T>C
|
|
ENST00000640747.1:c.*671T>C
|
ENSP00000492730.1:n.*671T>C
|
|
ENST00000354202.8:c.996T>C
|
ENSP00000346142.4:p.Phe332=
|
|
ENST00000392834.7:c.*701T>C
|
ENSP00000376579.3:n.*701T>C
|
|
ENST00000409993.6:c.996T>C
|
ENSP00000386597.2:p.Phe332=
|
|
ENST00000414373.5:c.*475-176T>C
|
ENSP00000402019.1:n.*475-176T>C
|
|
ENST00000442480.1:c.728T>C
|
ENSP00000406591.1:n.728T>C
|
|
ENST00000461999.1:n.1163T>C
|
|
|
ENST00000481084.5:n.1625T>C
|
|
|
ENST00000524658.1:n.301T>C
|
|
|
ENST00000525456.5:n.810T>C
|
|
|
NM_001382.3:c.996T>C
|
NP_001373.2:p.Phe332=
|
|
XM_005271422.2:c.996T>C
|
XP_005271479.1:p.Phe332=
|
|
XM_011542648.1:c.675T>C
|
XP_011540950.1:p.Phe225=
|
|
XR_947801.1:n.1165-176T>C
|
|
|
XM_005271422.3:c.996T>C
|
XP_005271479.1:p.Phe332=
|
|
XM_011542648.2:c.675T>C
|
XP_011540950.1:p.Phe225=
|
|
XM_017017293.2:c.675T>C
|
XP_016872782.1:p.Phe225=
|
|
XM_017017294.2:c.*78T>C
|
XP_016872783.1:n.*78T>C
|
|
XM_017017295.1:c.480T>C
|
XP_016872784.1:p.Phe160=
|
|
XR_001747785.2:n.1030T>C
|
|
|
XR_947801.2:n.952-176T>C
|
|
|
NM_001382.4:c.996T>C
MANE Select
|
NP_001373.2:p.Phe332=
|
|