|
ENST00000412971.6:c.973T=
|
ENSP00000410263.2:p.Phe325=
|
|
|
ENST00000435155.2:c.1390T=
|
ENSP00000403655.2:p.Phe464=
|
|
|
ENST00000467459.6:c.*219T=
|
ENSP00000435889.2:n.*219T=
|
|
|
ENST00000483127.2:c.1375T=
|
ENSP00000436469.2:p.Phe459=
|
|
|
ENST00000485271.6:c.1357T=
|
ENSP00000431264.2:p.Phe453=
|
|
|
ENST00000529892.6:c.1210T=
|
ENSP00000432528.2:p.Phe404=
|
|
|
ENST00000533178.6:c.*686T=
|
ENSP00000436430.2:n.*686T=
|
|
|
ENST00000672314.2:c.1357T=
|
ENSP00000500828.2:p.Phe453=
|
|
|
ENST00000710952.2:c.1441T=
MANE Plus Clinical
|
ENSP00000518552.2:p.Phe481=
|
|
|
ENST00000672818.3:c.1432T=
|
ENSP00000500891.1:p.Phe478=
|
|
|
ENST00000456914.7:c.1357T=
MANE Select
|
ENSP00000407590.2:p.Phe453=
|
|
|
ENST00000671898.1:c.1945T=
|
ENSP00000499896.1:p.Phe649=
|
|
|
ENST00000672011.1:c.*686T=
|
ENSP00000500418.1:n.*686T=
|
|
|
ENST00000672314.1:c.1357T=
|
ENSP00000500828.1:p.Phe453=
|
|
|
ENST00000672818.2:c.1432T=
|
ENSP00000500891.1:p.Phe478=
|
|
|
ENST00000673134.1:c.*1054T=
|
ENSP00000500526.1:n.*1054T=
|
|
|
ENST00000354383.10:c.1360T=
|
ENSP00000346354.6:p.Phe454=
|
|
|
ENST00000355498.6:c.1357T=
|
ENSP00000347685.2:p.Phe453=
|
|
|
ENST00000372098.7:c.1432T=
|
ENSP00000361170.3:p.Phe478=
|
|
|
ENST00000372104.5:c.1357T=
|
ENSP00000361176.1:p.Phe453=
|
|
|
ENST00000372110.7:c.1402T=
|
ENSP00000361182.3:p.Phe468=
|
|
|
ENST00000372115.7:c.1399T=
|
ENSP00000361187.3:p.Phe467=
|
|
|
ENST00000448481.5:c.1390T=
|
ENSP00000409718.1:p.Phe464=
|
|
|
ENST00000450313.5:c.1441T=
|
ENSP00000408176.1:p.Phe481=
|
|
|
ENST00000456914.6:c.1357T=
|
ENSP00000407590.2:p.Phe453=
|
|
|
ENST00000467459.5:c.774T=
|
ENSP00000435889.1:n.774T=
|
|
|
ENST00000475516.5:c.*1170T=
|
ENSP00000433843.1:n.*1170T=
|
|
|
ENST00000481571.5:c.*1170T=
|
ENSP00000436597.1:n.*1170T=
|
|
|
ENST00000482094.5:n.678T=
|
|
|
|
ENST00000485271.5:c.54T=
|
|
|
|
ENST00000488731.6:c.442T=
|
ENSP00000432330.1:p.Phe148=
|
|
|
ENST00000528013.6:c.1399T=
|
ENSP00000433130.2:p.Phe467=
|
|
|
ENST00000529892.5:c.432T=
|
|
|
|
ENST00000529984.5:c.442T=
|
ENSP00000437093.1:p.Phe148=
|
|
|
ENST00000531105.5:c.116-1780T=
|
ENSP00000431292.1:n.116-1780T=
|
|
|
ENST00000533178.5:c.986T=
|
ENSP00000436430.1:n.986T=
|
|
|
NM_001048171.1:c.1399T=
|
NP_001041636.1:p.Phe467=
|
|
|
NM_001048172.1:c.1360T=
|
NP_001041637.1:p.Phe454=
|
|
|
NM_001048173.1:c.1357T=
|
NP_001041638.1:p.Phe453=
|
|
|
NM_001048174.1:c.1357T=
|
NP_001041639.1:p.Phe453=
|
|
|
NM_001128425.1:c.1441T= , LRG_220t1:c.1441T=
|
NP_001121897.1:p.Phe481=
|
|
|
NM_001293190.1:c.1402T=
|
NP_001280119.1:p.Phe468=
|
|
|
NM_001293191.1:c.1390T=
|
NP_001280120.1:p.Phe464=
|
|
|
NM_001293192.1:c.1081T=
|
NP_001280121.1:p.Phe361=
|
|
|
NM_001293195.1:c.1357T=
|
NP_001280124.1:p.Phe453=
|
|
|
NM_001293196.1:c.1081T=
|
NP_001280125.1:p.Phe361=
|
|
|
NM_012222.2:c.1432T=
|
NP_036354.1:p.Phe478=
|
|
|
XM_011541497.1:c.1417T=
|
XP_011539799.1:p.Phe473=
|
|
|
XM_011541498.1:c.1399T=
|
XP_011539800.1:p.Phe467=
|
|
|
XM_011541499.1:c.1399T=
|
XP_011539801.1:p.Phe467=
|
|
|
XM_011541500.1:c.1399T=
|
XP_011539802.1:p.Phe467=
|
|
|
XM_011541501.1:c.1399T=
|
XP_011539803.1:p.Phe467=
|
|
|
XM_011541502.1:c.1399T=
|
XP_011539804.1:p.Phe467=
|
|
|
XM_011541503.1:c.1399T=
|
XP_011539805.1:p.Phe467=
|
|
|
XM_011541504.1:c.1390T=
|
XP_011539806.1:p.Phe464=
|
|
|
XM_011541505.1:c.979T=
|
XP_011539807.1:p.Phe327=
|
|
|
XM_011541506.1:c.979T=
|
XP_011539808.1:p.Phe327=
|
|
|
XM_011541507.1:c.970T=
|
XP_011539809.1:p.Phe324=
|
|
|
XM_011541508.1:c.985T=
|
XP_011539810.1:p.Phe329=
|
|
|
XR_946658.1:n.1488T=
|
|
|
|
NM_001350650.1:c.1012T=
|
NP_001337579.1:p.Phe338=
|
|
|
NM_001350651.1:c.1012T=
|
NP_001337580.1:p.Phe338=
|
|
|
NR_146882.1:n.1615T=
|
|
|
|
NR_146883.1:n.1429T=
|
|
|
|
XM_011541497.3:c.1417T=
|
XP_011539799.1:p.Phe473=
|
|
|
XM_011541500.3:c.1399T=
|
XP_011539802.1:p.Phe467=
|
|
|
XM_011541501.2:c.1399T=
|
XP_011539803.1:p.Phe467=
|
|
|
XM_011541502.2:c.1399T=
|
XP_011539804.1:p.Phe467=
|
|
|
XM_011541503.2:c.1399T=
|
XP_011539805.1:p.Phe467=
|
|
|
XM_011541504.2:c.1390T=
|
XP_011539806.1:p.Phe464=
|
|
|
XM_011541505.2:c.979T=
|
XP_011539807.1:p.Phe327=
|
|
|
XM_011541506.2:c.979T=
|
XP_011539808.1:p.Phe327=
|
|
|
XM_017001331.1:c.1399T=
|
XP_016856820.1:p.Phe467=
|
|
|
XM_017001332.1:c.1399T=
|
XP_016856821.1:p.Phe467=
|
|
|
XM_017001333.1:c.1399T=
|
XP_016856822.1:p.Phe467=
|
|
|
XM_017001334.1:c.1360T=
|
XP_016856823.1:p.Phe454=
|
|
|
XM_017001335.1:c.1081T=
|
XP_016856824.1:p.Phe361=
|
|
|
XM_017001336.1:c.1012T=
|
XP_016856825.1:p.Phe338=
|
|
|
XM_017001337.1:c.1012T=
|
XP_016856826.1:p.Phe338=
|
|
|
XM_024447244.1:c.1012T=
|
XP_024303012.1:p.Phe338=
|
|
|
XM_024447245.1:c.1012T=
|
XP_024303013.1:p.Phe338=
|
|
|
XM_024447248.1:c.970T=
|
XP_024303016.1:p.Phe324=
|
|
|
XM_024447249.1:c.841T=
|
XP_024303017.1:p.Phe281=
|
|
|
XM_024447250.1:c.841T=
|
XP_024303018.1:p.Phe281=
|
|
|
XM_024447251.1:c.841T=
|
XP_024303019.1:p.Phe281=
|
|
|
XR_001737190.1:n.1402T=
|
|
|
|
XR_001737192.1:n.1214T=
|
|
|
|
XR_002956643.1:n.1394T=
|
|
|
|
XR_002956644.1:n.1929T=
|
|
|
|
XR_946658.2:n.1502T=
|
|
|
|
NM_001048171.2:c.1357T=
|
NP_001041636.2:p.Phe453=
|
|
|
NM_001128425.2:c.1441T=
MANE Plus Clinical
|
NP_001121897.1:p.Phe481=
|
|
|
NM_001048172.2:c.1360T=
|
NP_001041637.1:p.Phe454=
|
|
|
NM_001048173.2:c.1357T=
|
NP_001041638.1:p.Phe453=
|
|
|
NM_001048174.2:c.1357T=
MANE Select
|
NP_001041639.1:p.Phe453=
|
|
|
NM_001293190.2:c.1402T=
|
NP_001280119.1:p.Phe468=
|
|
|
NM_001293191.2:c.1390T=
|
NP_001280120.1:p.Phe464=
|
|
|
NM_001293192.2:c.1081T=
|
NP_001280121.1:p.Phe361=
|
|
|
NM_001293195.2:c.1357T=
|
NP_001280124.1:p.Phe453=
|
|
|
NM_001293196.2:c.1081T=
|
NP_001280125.1:p.Phe361=
|
|
|
NM_001350650.2:c.1012T=
|
NP_001337579.1:p.Phe338=
|
|
|
NM_001350651.2:c.1012T=
|
NP_001337580.1:p.Phe338=
|
|
|
NM_012222.3:c.1432T=
|
NP_036354.1:p.Phe478=
|
|
|
NR_146882.2:n.1585T=
|
|
|
|
NR_146883.2:n.1434T=
|
|
|
