|
ENST00000561877.2:c.2078T>G
|
ENSP00000454986.2:n.2078T>G
|
|
|
ENST00000562813.2:n.3578T>G
|
|
|
|
ENST00000564123.7:n.936T>G
|
|
|
|
ENST00000564459.6:n.818T>G
|
|
|
|
ENST00000565781.6:n.5622T>G
|
|
|
|
ENST00000565859.2:n.3165T>G
|
|
|
|
ENST00000566210.2:n.2520T>G
|
|
|
|
ENST00000566410.2:n.5605T>G
|
|
|
|
ENST00000566452.2:n.3214T>G
|
|
|
|
ENST00000568104.6:c.1953T>G
|
ENSP00000456289.1:p.Ala651=
|
|
|
ENST00000569192.6:n.1196T>G
|
|
|
|
ENST00000618027.2:n.870T>G
|
|
|
|
ENST00000682000.1:n.1649T>G
|
|
|
|
ENST00000682001.1:n.3120T>G
|
|
|
|
ENST00000682038.1:c.*1480T>G
|
ENSP00000508404.1:n.*1480T>G
|
|
|
ENST00000682047.1:c.2091T>G
|
ENSP00000507699.1:p.Ala697=
|
|
|
ENST00000682088.1:c.*5032T>G
|
ENSP00000508064.1:n.*5032T>G
|
|
|
ENST00000682096.1:n.4541T>G
|
|
|
|
ENST00000682113.1:n.4308T>G
|
|
|
|
ENST00000682146.1:n.3248T>G
|
|
|
|
ENST00000682187.1:c.*1515T>G
|
ENSP00000507203.1:n.*1515T>G
|
|
|
ENST00000682188.1:c.2136T>G
|
ENSP00000507655.1:p.Ala712=
|
|
|
ENST00000682201.1:n.2082T>G
|
|
|
|
ENST00000682205.1:c.2091T>G
|
ENSP00000508377.1:p.Ala697=
|
|
|
ENST00000682348.1:c.*1140T>G
|
ENSP00000506965.1:n.*1140T>G
|
|
|
ENST00000682360.1:c.1494T>G
|
ENSP00000508007.1:p.Ala498=
|
|
|
ENST00000682370.1:n.3457T>G
|
|
|
|
ENST00000682420.1:n.2638T>G
|
|
|
|
ENST00000682429.1:c.*760T>G
|
ENSP00000506827.1:n.*760T>G
|
|
|
ENST00000682449.1:c.*842T>G
|
ENSP00000507836.1:n.*842T>G
|
|
|
ENST00000682470.1:c.2091T>G
|
ENSP00000507654.1:p.Ala697=
|
|
|
ENST00000682473.1:n.2056T>G
|
|
|
|
ENST00000682482.1:c.1965T>G
|
ENSP00000507903.1:p.Ala655=
|
|
|
ENST00000682492.1:n.2179T>G
|
|
|
|
ENST00000682493.1:c.*686T>G
|
ENSP00000506778.1:n.*686T>G
|
|
|
ENST00000682543.1:c.*1515T>G
|
ENSP00000507592.1:n.*1515T>G
|
|
|
ENST00000682597.1:n.4278T>G
|
|
|
|
ENST00000682658.1:c.*1123T>G
|
ENSP00000507773.1:n.*1123T>G
|
|
|
ENST00000682705.1:n.3160T>G
|
|
|
|
ENST00000682723.1:c.*170T>G
|
ENSP00000507115.1:n.*170T>G
|
|
|
ENST00000682735.1:c.*3759T>G
|
ENSP00000507007.1:n.*3759T>G
|
|
|
ENST00000682737.1:c.1494T>G
|
ENSP00000506876.1:p.Ala498=
|
|
|
ENST00000682757.1:n.3784T>G
|
|
|
|
ENST00000682855.1:c.2091T>G
|
ENSP00000507027.1:p.Ala697=
|
|
|
ENST00000682875.1:c.*170T>G
|
ENSP00000507771.1:n.*170T>G
|
|
|
ENST00000682930.1:c.2016T>G
|
ENSP00000507981.1:p.Ala672=
|
|
|
ENST00000682948.1:n.3123T>G
|
|
|
|
ENST00000682960.1:n.4332T>G
|
|
|
|
ENST00000683008.1:n.5546T>G
|
|
|
|
ENST00000683020.1:c.*632T>G
|
ENSP00000507944.1:n.*632T>G
|
|
|
ENST00000683099.1:n.4120T>G
|
|
|
|
ENST00000683170.1:n.3816T>G
|
|
|
|
ENST00000683212.1:c.*632T>G
|
ENSP00000507839.1:n.*632T>G
|
|
|
ENST00000683248.1:n.4049T>G
|
|
|
|
ENST00000683343.1:n.2945T>G
|
|
|
|
ENST00000683347.1:n.2298T>G
|
|
|
|
ENST00000683384.1:c.2112T>G
|
ENSP00000508330.1:n.2112T>G
|
|
|
ENST00000683396.1:n.4868T>G
|
|
|
|
ENST00000683410.1:n.2572T>G
|
|
|
|
ENST00000683443.1:n.1725T>G
|
|
|
|
ENST00000683485.1:n.4659T>G
|
|
|
|
ENST00000683504.1:n.7682T>G
|
|
|
|
ENST00000683533.1:c.*1515T>G
|
ENSP00000508296.1:n.*1515T>G
|
|
|
ENST00000683609.1:n.4160T>G
|
|
|
|
ENST00000683644.1:c.*1265T>G
|
ENSP00000507914.1:n.*1265T>G
|
|
|
ENST00000683690.1:c.*3543T>G
|
ENSP00000508152.1:n.*3543T>G
|
|
|
ENST00000683757.1:n.2080T>G
|
|
|
|
ENST00000683858.1:c.2043T>G
|
ENSP00000507657.1:p.Ala681=
|
|
|
ENST00000683875.1:c.1863T>G
|
ENSP00000507602.1:p.Ala621=
|
|
|
ENST00000683904.1:n.4396T>G
|
|
|
|
ENST00000683910.1:n.4786T>G
|
|
|
|
ENST00000683959.1:c.*1140T>G
|
ENSP00000508309.1:n.*1140T>G
|
|
|
ENST00000683976.1:c.*1640T>G
|
ENSP00000507183.1:n.*1640T>G
|
|
|
ENST00000683978.1:n.2234T>G
|
|
|
|
ENST00000683992.1:c.*1731T>G
|
ENSP00000508144.1:n.*1731T>G
|
|
|
ENST00000684020.1:n.2513T>G
|
|
|
|
ENST00000684044.1:n.3079T>G
|
|
|
|
ENST00000684057.1:n.3009T>G
|
|
|
|
ENST00000684076.1:n.3471T>G
|
|
|
|
ENST00000684128.1:n.3659T>G
|
|
|
|
ENST00000684194.1:n.3722T>G
|
|
|
|
ENST00000684205.1:n.3770T>G
|
|
|
|
ENST00000684246.1:c.*1731T>G
|
ENSP00000508273.1:n.*1731T>G
|
|
|
ENST00000684388.1:c.1011T>G
|
ENSP00000507647.1:p.Ala337=
|
|
|
ENST00000684402.1:n.3332T>G
|
|
|
|
ENST00000684446.1:n.3575T>G
|
|
|
|
ENST00000684531.1:n.3533T>G
|
|
|
|
ENST00000684635.1:c.1986T>G
|
ENSP00000507335.1:p.Ala662=
|
|
|
ENST00000684640.1:c.2053T>G
|
ENSP00000507292.1:n.2053T>G
|
|
|
ENST00000684673.1:c.*686T>G
|
ENSP00000507746.1:n.*686T>G
|
|
|
ENST00000684684.1:c.*1343T>G
|
ENSP00000507026.1:n.*1343T>G
|
|
|
ENST00000245157.11:c.2091T>G
MANE Select
|
ENSP00000245157.5:p.Ala697=
|
|
|
ENST00000245157.9:c.2091T>G
|
ENSP00000245157.5:p.Ala697=
|
|
|
ENST00000562813.1:n.3578T>G
|
|
|
|
ENST00000564123.6:c.181T>G
|
|
|
|
ENST00000564459.5:c.354T>G
|
ENSP00000463731.1:p.Ala118=
|
|
|
ENST00000565781.5:n.5622T>G
|
|
|
|
ENST00000568104.5:c.1953T>G
|
ENSP00000456289.1:p.Ala651=
|
|
|
NM_031885.3:c.2091T>G
|
NP_114091.3:p.Ala697=
|
|
|
XM_005256080.1:c.2091T>G
|
XP_005256137.1:p.Ala697=
|
|
|
XM_005256080.2:c.2091T>G
|
XP_005256137.1:p.Ala697=
|
|
|
XR_001751958.1:n.2452T>G
|
|
|
|
XR_001751959.2:n.2449T>G
|
|
|
|
XR_001751960.1:n.2152T>G
|
|
|
|
XR_001751961.1:n.2152T>G
|
|
|
|
XR_933380.2:n.2280T>G
|
|
|
|
NM_031885.4:c.2091T>G
|
NP_114091.3:p.Ala697=
|
|
|
NM_001377456.1:c.2091T>G
|
NP_001364385.1:p.Ala697=
|
|
|
NM_031885.5:c.2091T>G
MANE Select
|
NP_114091.4:p.Ala697=
|
|
|
NR_165293.1:n.2381T>G
|
|
|
|
NR_165294.1:n.2378T>G
|
|
|
|
NR_165295.1:n.2209T>G
|
|
|
|
NR_165296.1:n.2081T>G
|
|
|
|
NR_165297.1:n.2081T>G
|
|
|
