|
NM_001368809.2:c.247G>T
MANE Select
|
NP_001355738.1:p.Glu83Ter
|
|
ENST00000528667.7:c.247G>T
MANE Select
|
ENSP00000436541.2:p.Glu83Ter
|
|
NM_001257360.1:c.409G>T
|
NP_001244289.1:p.Glu137Ter
|
|
NM_001257360.2:c.409G>T
|
NP_001244289.1:p.Glu137Ter
|
|
NM_001257361.1:c.55G>T
|
NP_001244290.1:p.Glu19Ter
|
|
NM_001257361.2:c.55G>T
|
NP_001244290.1:p.Glu19Ter
|
|
NM_001308170.1:c.184G>T
|
NP_001295099.1:p.Glu62Ter
|
|
NM_004037.7:c.409G>T
|
NP_004028.3:p.Glu137Ter
|
|
NM_004037.9:c.247G>T
|
NP_004028.4:p.Glu83Ter
|
|
NM_139156.3:c.166G>T
|
NP_631895.1:p.Glu56Ter
|
|
NM_139156.4:c.166G>T
|
NP_631895.1:p.Glu56Ter
|
|
NM_203404.1:c.52G>T
|
NP_981949.1:p.Glu18Ter
|
|
ENST00000256578.7:c.409G>T
|
ENSP00000256578.3:p.Glu137Ter
|
|
ENST00000256578.8:c.247G>T
|
ENSP00000256578.4:p.Glu83Ter
|
|
ENST00000342115.8:c.166G>T
|
ENSP00000345498.4:p.Glu56Ter
|
|
ENST00000358729.8:c.184G>T
|
ENSP00000351573.4:p.Glu62Ter
|
|
ENST00000358729.9:c.247G>T
|
ENSP00000351573.5:p.Glu83Ter
|
|
ENST00000369840.6:c.320G>T
|
|
|
ENST00000369840.7:c.247G>T
|
ENSP00000358855.3:p.Glu83Ter
|
|
ENST00000393688.7:c.52G>T
|
ENSP00000377292.3:p.Glu18Ter
|
|
ENST00000459643.2:n.276G>T
|
|
|
ENST00000474459.5:c.-354G>T
|
ENSP00000432344.1:n.-354G>T
|
|
ENST00000474459.6:n.604G>T
|
|
|
ENST00000476688.3:c.36-474G>T
|
ENSP00000437025.2:n.36-474G>T
|
|
ENST00000486282.6:n.177G>T
|
|
|
ENST00000486282.7:n.208G>T
|
|
|
ENST00000524975.2:n.207G>T
|
|
|
ENST00000525415.2:n.505G>T
|
|
|
ENST00000526301.5:n.448G>T
|
|
|
ENST00000526301.6:n.310G>T
|
|
|
ENST00000527846.5:c.310G>T
|
ENSP00000431904.1:p.Glu104Ter
|
|
ENST00000527846.7:n.102G>T
|
|
|
ENST00000528270.5:c.440G>T
|
ENSP00000434891.1:n.440G>T
|
|
ENST00000528270.6:c.*235G>T
|
ENSP00000434891.2:n.*235G>T
|
|
ENST00000528454.5:c.55G>T
|
ENSP00000437164.1:p.Glu19Ter
|
|
ENST00000528667.5:c.409G>T
|
ENSP00000436541.1:p.Glu137Ter
|
|
ENST00000531203.5:c.55G>T
|
ENSP00000431975.1:p.Glu19Ter
|
|
ENST00000531203.6:c.55G>T
|
ENSP00000431975.2:p.Glu19Ter
|
|
ENST00000531734.5:c.166G>T
|
ENSP00000433739.1:p.Glu56Ter
|
|
ENST00000531734.6:c.166G>T
|
ENSP00000433739.2:p.Glu56Ter
|
|
ENST00000652975.2:c.116G>T
|
ENSP00000499620.2:p.Ter39Leu
|
|
ENST00000654851.1:n.89G>T
|
|
|
ENST00000655992.1:c.55G>T
|
ENSP00000499740.1:p.Glu19Ter
|
|
ENST00000659122.2:c.247G>T
|
ENSP00000499621.2:p.Glu83Ter
|
|
ENST00000663749.1:c.116G>T
|
ENSP00000499739.1:p.Ter39Leu
|
|
ENST00000667949.2:c.-354G>T
|
ENSP00000499465.2:n.-354G>T
|
|
ENST00000668421.1:c.*188G>T
|
ENSP00000499362.1:n.*188G>T
|
|
ENST00000679379.1:c.116G>T
|
ENSP00000505528.1:p.Ter39Leu
|
|
ENST00000679593.1:c.247G>T
|
ENSP00000505999.1:p.Glu83Ter
|
|
ENST00000679880.1:n.505G>T
|
|
|
ENST00000679892.1:c.116G>T
|
ENSP00000504882.1:p.Ter39Leu
|
|
ENST00000679981.1:c.116G>T
|
ENSP00000506422.1:p.Ter39Leu
|
|
ENST00000680132.1:c.116G>T
|
ENSP00000505950.1:p.Ter39Leu
|
|
ENST00000680148.1:c.116G>T
|
ENSP00000505994.1:p.Ter39Leu
|
|
ENST00000680170.1:n.505G>T
|
|
|
ENST00000680192.1:n.598G>T
|
|
|
ENST00000680519.1:n.467G>T
|
|
|
ENST00000680531.1:c.116G>T
|
ENSP00000506332.1:p.Ter39Leu
|
|
ENST00000680820.1:c.116G>T
|
ENSP00000505735.1:p.Ter39Leu
|
|
ENST00000680832.1:c.116G>T
|
ENSP00000505774.1:p.Ter39Leu
|
|
ENST00000680929.1:c.116G>T
|
ENSP00000504916.1:p.Ter39Leu
|
|
ENST00000681108.1:c.116G>T
|
ENSP00000506701.1:p.Ter39Leu
|
|
ENST00000681121.1:c.55G>T
|
ENSP00000506466.1:p.Glu19Ter
|
|
ENST00000681132.1:c.116G>T
|
ENSP00000506195.1:p.Ter39Leu
|
|
ENST00000681181.1:c.116G>T
|
ENSP00000506038.1:p.Ter39Leu
|
|
ENST00000681218.1:c.116G>T
|
ENSP00000505976.1:p.Ter39Leu
|
|
ENST00000681246.1:c.247G>T
|
ENSP00000505534.1:p.Glu83Ter
|
|
ENST00000681496.1:c.116G>T
|
ENSP00000505948.1:p.Ter39Leu
|
|
ENST00000681834.1:n.324G>T
|
|
|
ENST00000681862.1:c.116G>T
|
ENSP00000505537.1:p.Ter39Leu
|
|
XM_011541247.1:c.622G>T
|
XP_011539549.1:p.Glu208Ter
|
|
XM_011541248.1:c.622G>T
|
XP_011539550.1:p.Glu208Ter
|
|
XM_024446431.1:c.184G>T
|
XP_024302199.1:p.Glu62Ter
|
|
XM_024446432.1:c.184G>T
|
XP_024302200.1:p.Glu62Ter
|
|
XR_002956282.1:n.820G>T
|
|
|
XR_946607.1:n.645G>T
|
|
