|
ENST00000323130.8:c.762G>C
|
ENSP00000314488.4:p.Val254=
|
|
|
ENST00000409623.8:c.762G>C
|
ENSP00000386966.4:p.Val254=
|
|
|
ENST00000452276.6:c.762G>C
|
ENSP00000388671.2:p.Val254=
|
|
|
ENST00000453906.6:c.407-5583G>C
|
ENSP00000403035.2:n.407-5583G>C
|
|
|
ENST00000520680.2:c.762G>C
|
ENSP00000428785.2:p.Val254=
|
|
|
ENST00000521065.2:c.*479G>C
|
ENSP00000427947.2:n.*479G>C
|
|
|
ENST00000521517.6:c.762G>C
|
ENSP00000430740.2:p.Val254=
|
|
|
ENST00000681998.1:c.692G>C
|
ENSP00000506773.1:n.692G>C
|
|
|
ENST00000682036.1:c.407-5583G>C
|
ENSP00000508390.1:n.407-5583G>C
|
|
|
ENST00000682577.1:c.692G>C
|
ENSP00000506963.1:n.692G>C
|
|
|
ENST00000682624.1:c.*336G>C
|
ENSP00000508343.1:n.*336G>C
|
|
|
ENST00000682700.1:c.762G>C
|
ENSP00000507627.1:p.Val254=
|
|
|
ENST00000682744.1:n.300G>C
|
|
|
|
ENST00000682804.1:n.585G>C
|
|
|
|
ENST00000682837.1:c.517G>C
|
ENSP00000507920.1:p.Asp173His
|
|
|
ENST00000682935.1:n.2322G>C
|
|
|
|
ENST00000682984.1:c.423G>C
|
ENSP00000507209.1:p.Val141=
|
|
|
ENST00000683078.1:c.517G>C
|
ENSP00000506796.1:p.Asp173His
|
|
|
ENST00000683223.1:c.603G>C
|
ENSP00000507685.1:n.603G>C
|
|
|
ENST00000683238.1:n.2143G>C
|
|
|
|
ENST00000683249.1:n.2343G>C
|
|
|
|
ENST00000683336.1:c.692G>C
|
ENSP00000507695.1:n.692G>C
|
|
|
ENST00000683362.1:c.423G>C
|
ENSP00000506985.1:p.Val141=
|
|
|
ENST00000683850.1:n.685G>C
|
|
|
|
ENST00000683919.1:c.692G>C
|
ENSP00000507617.1:n.692G>C
|
|
|
ENST00000683953.1:c.673G>C
|
ENSP00000508375.1:n.673G>C
|
|
|
ENST00000684023.1:c.896G>C
|
ENSP00000507461.1:n.896G>C
|
|
|
ENST00000684064.1:c.453G>C
|
ENSP00000508192.1:p.Val151=
|
|
|
ENST00000684089.1:n.2312G>C
|
|
|
|
ENST00000684149.1:c.*98G>C
|
ENSP00000507943.1:n.*98G>C
|
|
|
ENST00000684416.1:n.721G>C
|
|
|
|
ENST00000684540.1:c.692G>C
|
ENSP00000507987.1:n.692G>C
|
|
|
ENST00000453321.8:c.762G>C
MANE Select
|
ENSP00000389998.3:p.Val254=
|
|
|
ENST00000323130.7:c.732G>C
|
ENSP00000314488.3:p.Val244=
|
|
|
ENST00000409623.7:c.519G>C
|
ENSP00000386966.3:p.Val173=
|
|
|
ENST00000425545.2:n.209G>C
|
|
|
|
ENST00000452276.5:c.453G>C
|
ENSP00000388671.1:p.Val151=
|
|
|
ENST00000453321.7:c.762G>C
|
ENSP00000389998.3:p.Val254=
|
|
|
ENST00000453906.5:c.407-5583G>C
|
ENSP00000403035.1:n.407-5583G>C
|
|
|
ENST00000474944.5:n.427-5583G>C
|
|
|
|
ENST00000496213.5:n.227G>C
|
|
|
|
NM_001142301.1:c.519G>C , LRG_688t2:c.519G>C
|
NP_001135773.1:p.Val173=
|
|
|
NM_153704.5:c.762G>C , LRG_688t1:c.762G>C
|
NP_714915.3:p.Val254=
|
|
|
NR_024522.1:n.833G>C
|
|
|
|
XM_006716686.2:c.459G>C
|
XP_006716749.1:p.Val153=
|
|
|
XM_006716687.2:c.162G>C
|
XP_006716750.1:p.Val54=
|
|
|
XM_011517363.1:c.407-5583G>C
|
XP_011515665.1:n.407-5583G>C
|
|
|
XR_428387.1:n.820G>C
|
|
|
|
XR_928360.1:n.820G>C
|
|
|
|
XR_928361.1:n.820G>C
|
|
|
|
XR_928362.1:n.820G>C
|
|
|
|
XM_006716686.4:c.459G>C
|
XP_006716749.1:p.Val153=
|
|
|
XM_011517363.3:c.407-5583G>C
|
XP_011515665.1:n.407-5583G>C
|
|
|
XM_024447326.1:c.108G>C
|
XP_024303094.1:p.Val36=
|
|
|
XR_001745619.2:n.803G>C
|
|
|
|
XR_428387.2:n.803G>C
|
|
|
|
XR_928360.3:n.803G>C
|
|
|
|
XR_928362.3:n.803G>C
|
|
|
|
NM_153704.6:c.762G>C
MANE Select
|
NP_714915.3:p.Val254=
|
|
|
NR_024522.2:n.783G>C
|
|
|
