|
ENST00000561877.2:c.2138G>A
|
ENSP00000454986.2:n.2138G>A
|
|
|
ENST00000562813.2:n.3638G>A
|
|
|
|
ENST00000564123.7:n.996G>A
|
|
|
|
ENST00000564459.6:n.878G>A
|
|
|
|
ENST00000565781.6:n.5682G>A
|
|
|
|
ENST00000565859.2:n.3225G>A
|
|
|
|
ENST00000566210.2:n.2580G>A
|
|
|
|
ENST00000566410.2:n.5665G>A
|
|
|
|
ENST00000566452.2:n.3274G>A
|
|
|
|
ENST00000568104.6:c.2013G>A
|
ENSP00000456289.1:p.Gly671=
|
|
|
ENST00000569192.6:n.1256G>A
|
|
|
|
ENST00000618027.2:n.930G>A
|
|
|
|
ENST00000682000.1:n.1709G>A
|
|
|
|
ENST00000682001.1:n.3180G>A
|
|
|
|
ENST00000682038.1:c.*1540G>A
|
ENSP00000508404.1:n.*1540G>A
|
|
|
ENST00000682047.1:c.2151G>A
|
ENSP00000507699.1:p.Gly717=
|
|
|
ENST00000682088.1:c.*5092G>A
|
ENSP00000508064.1:n.*5092G>A
|
|
|
ENST00000682096.1:n.4601G>A
|
|
|
|
ENST00000682113.1:n.4368G>A
|
|
|
|
ENST00000682146.1:n.3308G>A
|
|
|
|
ENST00000682187.1:c.*1575G>A
|
ENSP00000507203.1:n.*1575G>A
|
|
|
ENST00000682188.1:c.2196G>A
|
ENSP00000507655.1:p.Gly732=
|
|
|
ENST00000682201.1:n.2142G>A
|
|
|
|
ENST00000682205.1:c.2151G>A
|
ENSP00000508377.1:p.Gly717=
|
|
|
ENST00000682348.1:c.*1200G>A
|
ENSP00000506965.1:n.*1200G>A
|
|
|
ENST00000682360.1:c.1554G>A
|
ENSP00000508007.1:p.Gly518=
|
|
|
ENST00000682370.1:n.3517G>A
|
|
|
|
ENST00000682420.1:n.2698G>A
|
|
|
|
ENST00000682429.1:c.*820G>A
|
ENSP00000506827.1:n.*820G>A
|
|
|
ENST00000682449.1:c.*902G>A
|
ENSP00000507836.1:n.*902G>A
|
|
|
ENST00000682470.1:c.2151G>A
|
ENSP00000507654.1:p.Gly717=
|
|
|
ENST00000682473.1:n.2116G>A
|
|
|
|
ENST00000682482.1:c.2025G>A
|
ENSP00000507903.1:p.Gly675=
|
|
|
ENST00000682492.1:n.2239G>A
|
|
|
|
ENST00000682493.1:c.*746G>A
|
ENSP00000506778.1:n.*746G>A
|
|
|
ENST00000682543.1:c.*1575G>A
|
ENSP00000507592.1:n.*1575G>A
|
|
|
ENST00000682597.1:n.4338G>A
|
|
|
|
ENST00000682658.1:c.*1183G>A
|
ENSP00000507773.1:n.*1183G>A
|
|
|
ENST00000682705.1:n.3220G>A
|
|
|
|
ENST00000682723.1:c.*230G>A
|
ENSP00000507115.1:n.*230G>A
|
|
|
ENST00000682735.1:c.*3819G>A
|
ENSP00000507007.1:n.*3819G>A
|
|
|
ENST00000682737.1:c.1554G>A
|
ENSP00000506876.1:p.Gly518=
|
|
|
ENST00000682757.1:n.3844G>A
|
|
|
|
ENST00000682855.1:c.2151G>A
|
ENSP00000507027.1:p.Gly717=
|
|
|
ENST00000682875.1:c.*230G>A
|
ENSP00000507771.1:n.*230G>A
|
|
|
ENST00000682930.1:c.2076G>A
|
ENSP00000507981.1:p.Gly692=
|
|
|
ENST00000682948.1:n.3183G>A
|
|
|
|
ENST00000682960.1:n.4392G>A
|
|
|
|
ENST00000683008.1:n.5606G>A
|
|
|
|
ENST00000683020.1:c.*692G>A
|
ENSP00000507944.1:n.*692G>A
|
|
|
ENST00000683099.1:n.4180G>A
|
|
|
|
ENST00000683170.1:n.3876G>A
|
|
|
|
ENST00000683212.1:c.*692G>A
|
ENSP00000507839.1:n.*692G>A
|
|
|
ENST00000683248.1:n.4109G>A
|
|
|
|
ENST00000683343.1:n.3005G>A
|
|
|
|
ENST00000683347.1:n.2358G>A
|
|
|
|
ENST00000683384.1:c.2172G>A
|
ENSP00000508330.1:n.2172G>A
|
|
|
ENST00000683396.1:n.4928G>A
|
|
|
|
ENST00000683410.1:n.2632G>A
|
|
|
|
ENST00000683443.1:n.1785G>A
|
|
|
|
ENST00000683485.1:n.4719G>A
|
|
|
|
ENST00000683504.1:n.7742G>A
|
|
|
|
ENST00000683533.1:c.*1575G>A
|
ENSP00000508296.1:n.*1575G>A
|
|
|
ENST00000683609.1:n.4220G>A
|
|
|
|
ENST00000683644.1:c.*1325G>A
|
ENSP00000507914.1:n.*1325G>A
|
|
|
ENST00000683690.1:c.*3603G>A
|
ENSP00000508152.1:n.*3603G>A
|
|
|
ENST00000683757.1:n.2140G>A
|
|
|
|
ENST00000683858.1:c.2103G>A
|
ENSP00000507657.1:p.Gly701=
|
|
|
ENST00000683875.1:c.1923G>A
|
ENSP00000507602.1:p.Gly641=
|
|
|
ENST00000683904.1:n.4456G>A
|
|
|
|
ENST00000683910.1:n.4846G>A
|
|
|
|
ENST00000683959.1:c.*1200G>A
|
ENSP00000508309.1:n.*1200G>A
|
|
|
ENST00000683976.1:c.*1700G>A
|
ENSP00000507183.1:n.*1700G>A
|
|
|
ENST00000683978.1:n.2294G>A
|
|
|
|
ENST00000683992.1:c.*1791G>A
|
ENSP00000508144.1:n.*1791G>A
|
|
|
ENST00000684020.1:n.2573G>A
|
|
|
|
ENST00000684044.1:n.3139G>A
|
|
|
|
ENST00000684057.1:n.3069G>A
|
|
|
|
ENST00000684076.1:n.3531G>A
|
|
|
|
ENST00000684128.1:n.3719G>A
|
|
|
|
ENST00000684194.1:n.3782G>A
|
|
|
|
ENST00000684205.1:n.3830G>A
|
|
|
|
ENST00000684246.1:c.*1791G>A
|
ENSP00000508273.1:n.*1791G>A
|
|
|
ENST00000684388.1:c.1071G>A
|
ENSP00000507647.1:p.Gly357=
|
|
|
ENST00000684402.1:n.3392G>A
|
|
|
|
ENST00000684446.1:n.3635G>A
|
|
|
|
ENST00000684531.1:n.3593G>A
|
|
|
|
ENST00000684635.1:c.2046G>A
|
ENSP00000507335.1:p.Gly682=
|
|
|
ENST00000684640.1:c.2113G>A
|
ENSP00000507292.1:n.2113G>A
|
|
|
ENST00000684673.1:c.*746G>A
|
ENSP00000507746.1:n.*746G>A
|
|
|
ENST00000245157.11:c.2151G>A
MANE Select
|
ENSP00000245157.5:p.Gly717=
|
|
|
ENST00000245157.9:c.2151G>A
|
ENSP00000245157.5:p.Gly717=
|
|
|
ENST00000562813.1:n.3638G>A
|
|
|
|
ENST00000564123.6:c.241G>A
|
|
|
|
ENST00000564459.5:c.414G>A
|
ENSP00000463731.1:p.Gly138=
|
|
|
ENST00000565781.5:n.5682G>A
|
|
|
|
ENST00000568104.5:c.2013G>A
|
ENSP00000456289.1:p.Gly671=
|
|
|
NM_031885.3:c.2151G>A
|
NP_114091.3:p.Gly717=
|
|
|
XM_005256080.1:c.2151G>A
|
XP_005256137.1:p.Gly717=
|
|
|
XM_005256080.2:c.2151G>A
|
XP_005256137.1:p.Gly717=
|
|
|
XR_001751958.1:n.2512G>A
|
|
|
|
XR_001751959.2:n.2509G>A
|
|
|
|
XR_001751960.1:n.2212G>A
|
|
|
|
XR_001751961.1:n.2212G>A
|
|
|
|
XR_933380.2:n.2340G>A
|
|
|
|
NM_031885.4:c.2151G>A
|
NP_114091.3:p.Gly717=
|
|
|
NM_001377456.1:c.2151G>A
|
NP_001364385.1:p.Gly717=
|
|
|
NM_031885.5:c.2151G>A
MANE Select
|
NP_114091.4:p.Gly717=
|
|
|
NR_165293.1:n.2441G>A
|
|
|
|
NR_165294.1:n.2438G>A
|
|
|
|
NR_165295.1:n.2269G>A
|
|
|
|
NR_165296.1:n.2141G>A
|
|
|
|
NR_165297.1:n.2141G>A
|
|
|
