|
ENST00000402135.8:c.524C>T
|
ENSP00000385021.3:p.Ala175Val
|
|
|
ENST00000403295.8:c.524C>T
|
ENSP00000386097.3:p.Ala175Val
|
|
|
ENST00000403676.6:c.*87C>T
|
ENSP00000384046.2:n.*87C>T
|
|
|
ENST00000417361.2:c.*87C>T
|
ENSP00000389448.2:n.*87C>T
|
|
|
ENST00000427708.7:c.524C>T
|
ENSP00000400969.3:p.Ala175Val
|
|
|
ENST00000446381.6:c.97-32736C>T
|
ENSP00000390991.2:n.97-32736C>T
|
|
|
ENST00000449070.6:c.347C>T
|
ENSP00000401280.2:p.Ala116Val
|
|
|
ENST00000470506.2:n.583C>T
|
|
|
|
ENST00000696305.1:c.467C>T
|
ENSP00000512543.1:p.Ala156Val
|
|
|
ENST00000696306.1:c.374+23332C>T
|
ENSP00000512544.1:n.374+23332C>T
|
|
|
ENST00000696307.1:c.524C>T
|
ENSP00000512545.1:p.Ala175Val
|
|
|
ENST00000696314.1:c.524C>T
|
ENSP00000512552.1:p.Ala175Val
|
|
|
ENST00000696315.1:c.*87C>T
|
ENSP00000512553.1:n.*87C>T
|
|
|
ENST00000696316.1:c.524C>T
|
ENSP00000512554.1:p.Ala175Val
|
|
|
ENST00000696317.1:c.524C>T
|
ENSP00000512555.1:p.Ala175Val
|
|
|
ENST00000696318.1:c.97-32736C>T
|
ENSP00000512556.1:n.97-32736C>T
|
|
|
ENST00000696319.1:c.467C>T
|
ENSP00000512557.1:p.Ala156Val
|
|
|
ENST00000696320.1:n.536C>T
|
|
|
|
ENST00000696321.1:c.347C>T
|
ENSP00000512558.1:p.Ala116Val
|
|
|
ENST00000696324.1:c.*87C>T
|
ENSP00000512561.1:n.*87C>T
|
|
|
ENST00000696325.1:n.3592C>T
|
|
|
|
ENST00000696326.1:c.524C>T
|
ENSP00000512562.1:p.Ala175Val
|
|
|
ENST00000696338.1:n.557C>T
|
|
|
|
ENST00000696339.1:n.18C>T
|
|
|
|
ENST00000696340.1:n.544C>T
|
|
|
|
ENST00000696341.1:n.592C>T
|
|
|
|
ENST00000696342.1:c.*87C>T
|
ENSP00000512569.1:n.*87C>T
|
|
|
ENST00000696343.1:n.2383C>T
|
|
|
|
ENST00000696344.1:c.*238C>T
|
ENSP00000512570.1:n.*238C>T
|
|
|
ENST00000696345.1:n.536C>T
|
|
|
|
ENST00000696346.1:n.209+23332C>T
|
|
|
|
ENST00000696347.1:c.*283C>T
|
ENSP00000512571.1:n.*283C>T
|
|
|
ENST00000696358.1:n.536C>T
|
|
|
|
ENST00000696360.1:n.1228C>T
|
|
|
|
ENST00000696361.1:c.*87C>T
|
ENSP00000512579.1:n.*87C>T
|
|
|
ENST00000696362.1:c.374+23332C>T
|
ENSP00000512580.1:n.374+23332C>T
|
|
|
ENST00000696363.1:n.2301C>T
|
|
|
|
ENST00000696364.1:n.477C>T
|
|
|
|
ENST00000696371.1:c.515C>T
|
ENSP00000512586.1:p.Ala172Val
|
|
|
ENST00000696373.1:c.*87C>T
|
ENSP00000512587.1:n.*87C>T
|
|
|
ENST00000696374.1:c.374+23332C>T
|
ENSP00000512588.1:n.374+23332C>T
|
|
|
ENST00000696377.1:n.411C>T
|
|
|
|
ENST00000696378.1:c.*87C>T
|
ENSP00000512589.1:n.*87C>T
|
|
|
ENST00000696379.1:c.*87C>T
|
ENSP00000512590.1:n.*87C>T
|
|
|
ENST00000696380.1:n.304C>T
|
|
|
|
ENST00000696394.1:n.3586C>T
|
|
|
|
ENST00000696395.1:n.109-32736C>T
|
|
|
|
ENST00000696396.1:n.1238C>T
|
|
|
|
ENST00000696397.1:n.2209C>T
|
|
|
|
ENST00000696398.1:c.524C>T
|
ENSP00000512604.1:p.Ala175Val
|
|
|
ENST00000696399.1:n.148-32736C>T
|
|
|
|
ENST00000696400.1:c.*288C>T
|
ENSP00000512605.1:n.*288C>T
|
|
|
ENST00000696401.1:n.491C>T
|
|
|
|
ENST00000696409.1:c.*87C>T
|
ENSP00000512610.1:n.*87C>T
|
|
|
ENST00000696410.1:c.*87C>T
|
ENSP00000512611.1:n.*87C>T
|
|
|
ENST00000696411.1:n.165-32736C>T
|
|
|
|
ENST00000696414.1:n.1130C>T
|
|
|
|
ENST00000696415.1:c.524C>T
|
ENSP00000512612.1:p.Ala175Val
|
|
|
ENST00000696416.1:n.109-32736C>T
|
|
|
|
ENST00000696417.1:c.*254C>T
|
ENSP00000512613.1:n.*254C>T
|
|
|
ENST00000696432.1:n.2968C>T
|
|
|
|
ENST00000696433.1:c.97-32736C>T
|
ENSP00000512627.1:n.97-32736C>T
|
|
|
ENST00000696434.1:c.347C>T
|
ENSP00000512628.1:p.Ala116Val
|
|
|
ENST00000696435.1:c.97-32736C>T
|
ENSP00000512629.1:n.97-32736C>T
|
|
|
ENST00000696438.1:c.*357C>T
|
ENSP00000512630.1:n.*357C>T
|
|
|
ENST00000696454.1:c.*87C>T
|
ENSP00000512641.1:n.*87C>T
|
|
|
ENST00000696455.1:c.347C>T
|
ENSP00000512642.1:p.Ala116Val
|
|
|
ENST00000696457.1:c.97-32736C>T
|
ENSP00000512643.1:n.97-32736C>T
|
|
|
ENST00000696458.1:c.467C>T
|
ENSP00000512644.1:p.Ala156Val
|
|
|
ENST00000696459.1:c.*87C>T
|
ENSP00000512645.1:n.*87C>T
|
|
|
ENST00000696460.1:n.536C>T
|
|
|
|
ENST00000696461.1:c.524C>T
|
ENSP00000512646.1:p.Ala175Val
|
|
|
ENST00000696467.1:c.*87C>T
|
ENSP00000512648.1:n.*87C>T
|
|
|
ENST00000696468.1:c.524C>T
|
ENSP00000512649.1:p.Ala175Val
|
|
|
ENST00000696469.1:c.524C>T
|
ENSP00000512650.1:p.Ala175Val
|
|
|
ENST00000696472.1:c.524C>T
|
ENSP00000512651.1:p.Ala175Val
|
|
|
ENST00000696473.1:c.*207C>T
|
ENSP00000512652.1:n.*207C>T
|
|
|
ENST00000696475.1:n.2160C>T
|
|
|
|
ENST00000696476.1:c.524C>T
|
ENSP00000512653.1:p.Ala175Val
|
|
|
ENST00000696477.1:n.466C>T
|
|
|
|
ENST00000696492.1:c.*189C>T
|
ENSP00000512662.1:n.*189C>T
|
|
|
ENST00000696493.1:c.*357C>T
|
ENSP00000512663.1:n.*357C>T
|
|
|
ENST00000696494.1:n.684C>T
|
|
|
|
ENST00000696495.1:c.*210C>T
|
ENSP00000512664.1:n.*210C>T
|
|
|
ENST00000696496.1:n.563C>T
|
|
|
|
ENST00000696497.1:n.3821C>T
|
|
|
|
ENST00000696498.1:n.1411C>T
|
|
|
|
ENST00000696499.1:c.524C>T
|
ENSP00000512665.1:p.Ala175Val
|
|
|
ENST00000696508.1:c.*87C>T
|
ENSP00000512674.1:n.*87C>T
|
|
|
ENST00000696509.1:c.524C>T
|
ENSP00000512675.1:p.Ala175Val
|
|
|
ENST00000696510.1:c.97-32736C>T
|
ENSP00000512676.1:n.97-32736C>T
|
|
|
ENST00000696511.1:c.*238C>T
|
ENSP00000512677.1:n.*238C>T
|
|
|
ENST00000696527.1:c.524C>T
|
ENSP00000512690.1:p.Ala175Val
|
|
|
ENST00000696528.1:c.467C>T
|
ENSP00000512691.1:p.Ala156Val
|
|
|
ENST00000696530.1:c.305C>T
|
ENSP00000512692.1:p.Ala102Val
|
|
|
ENST00000696531.1:c.*87C>T
|
ENSP00000512693.1:n.*87C>T
|
|
|
ENST00000696542.1:n.39-32736C>T
|
|
|
|
ENST00000696543.1:c.347C>T
|
ENSP00000512703.1:p.Ala116Val
|
|
|
ENST00000696544.1:c.404C>T
|
ENSP00000512704.1:p.Ala135Val
|
|
|
ENST00000696545.1:c.*238C>T
|
ENSP00000512705.1:n.*238C>T
|
|
|
ENST00000696546.1:c.*288C>T
|
ENSP00000512706.1:n.*288C>T
|
|
|
ENST00000696547.1:c.467C>T
|
ENSP00000512707.1:p.Ala156Val
|
|
|
ENST00000696548.1:c.*288C>T
|
ENSP00000512708.1:n.*288C>T
|
|
|
ENST00000696549.1:c.524C>T
|
ENSP00000512709.1:p.Ala175Val
|
|
|
ENST00000696550.1:c.524C>T
|
ENSP00000512710.1:p.Ala175Val
|
|
|
ENST00000696564.1:c.524C>T
|
ENSP00000512722.1:p.Ala175Val
|
|
|
ENST00000696565.1:c.524C>T
|
ENSP00000512723.1:p.Ala175Val
|
|
|
ENST00000696566.1:n.466C>T
|
|
|
|
ENST00000696567.1:c.524C>T
|
ENSP00000512724.1:p.Ala175Val
|
|
|
ENST00000696569.1:n.537C>T
|
|
|
|
ENST00000696570.1:c.374+23332C>T
|
ENSP00000512725.1:n.374+23332C>T
|
|
|
ENST00000696594.1:c.524C>T
|
ENSP00000512739.1:p.Ala175Val
|
|
|
ENST00000696595.1:c.467C>T
|
ENSP00000512740.1:p.Ala156Val
|
|
|
ENST00000696596.1:c.*87C>T
|
ENSP00000512741.1:n.*87C>T
|
|
|
ENST00000696597.1:c.*87C>T
|
ENSP00000512742.1:n.*87C>T
|
|
|
ENST00000696598.1:c.524C>T
|
ENSP00000512743.1:p.Ala175Val
|
|
|
ENST00000696620.1:c.216+31204C>T
|
ENSP00000512759.1:n.216+31204C>T
|
|
|
ENST00000696621.1:c.524C>T
|
ENSP00000512760.1:p.Ala175Val
|
|
|
ENST00000696622.1:n.543C>T
|
|
|
|
ENST00000696623.1:n.409C>T
|
|
|
|
ENST00000696624.1:c.524C>T
|
ENSP00000512761.1:p.Ala175Val
|
|
|
ENST00000696625.1:c.317+23332C>T
|
ENSP00000512762.1:n.317+23332C>T
|
|
|
ENST00000696634.1:c.246C>T
|
ENSP00000512770.1:n.246C>T
|
|
|
ENST00000696635.1:c.524C>T
|
ENSP00000512771.1:p.Ala175Val
|
|
|
ENST00000696637.1:n.4951C>T
|
|
|
|
ENST00000696638.1:n.494C>T
|
|
|
|
ENST00000233741.9:c.524C>T
MANE Select
|
ENSP00000233741.5:p.Ala175Val
|
|
|
ENST00000233741.8:c.524C>T
|
ENSP00000233741.4:p.Ala175Val
|
|
|
ENST00000402135.7:c.524C>T
|
ENSP00000385021.3:p.Ala175Val
|
|
|
ENST00000403295.7:c.524C>T
|
ENSP00000386097.3:p.Ala175Val
|
|
|
ENST00000403676.5:c.173C>T
|
ENSP00000384046.1:p.Ala58Val
|
|
|
ENST00000417361.1:c.173C>T
|
ENSP00000389448.1:p.Ala58Val
|
|
|
ENST00000427708.6:c.522C>T
|
|
|
|
ENST00000446381.5:c.97-32736C>T
|
ENSP00000390991.1:n.97-32736C>T
|
|
|
ENST00000449070.5:c.347C>T
|
ENSP00000401280.1:p.Ala116Val
|
|
|
NM_001114636.1:c.524C>T , LRG_501t1:c.524C>T
|
NP_001108108.1:p.Ala175Val
|
|
|
NM_018062.3:c.524C>T , LRG_501t2:c.524C>T
|
NP_060532.2:p.Ala175Val
|
|
|
XM_005264395.2:c.524C>T
|
XP_005264452.1:p.Ala175Val
|
|
|
XM_005264397.3:c.173C>T
|
XP_005264454.1:p.Ala58Val
|
|
|
XM_011532939.1:c.524C>T
|
XP_011531241.1:p.Ala175Val
|
|
|
XM_011532940.1:c.524C>T
|
XP_011531242.1:p.Ala175Val
|
|
|
XM_011532941.1:c.524C>T
|
XP_011531243.1:p.Ala175Val
|
|
|
XM_011532942.1:c.524C>T
|
XP_011531244.1:p.Ala175Val
|
|
|
XM_011532943.1:c.725C>T
|
XP_011531245.1:p.Ala242Val
|
|
|
XM_011532944.1:c.173C>T
|
XP_011531246.1:p.Ala58Val
|
|
|
XM_011532945.1:c.173C>T
|
XP_011531247.1:p.Ala58Val
|
|
|
XR_939692.1:n.591C>T
|
|
|
|
NR_156742.1:n.313C>T
|
|
|
|
XM_005264395.4:c.524C>T
|
XP_005264452.1:p.Ala175Val
|
|
|
XM_011532939.3:c.524C>T
|
XP_011531241.1:p.Ala175Val
|
|
|
XM_011532940.3:c.524C>T
|
XP_011531242.1:p.Ala175Val
|
|
|
XM_011532941.2:c.524C>T
|
XP_011531243.1:p.Ala175Val
|
|
|
XM_011532942.3:c.524C>T
|
XP_011531244.1:p.Ala175Val
|
|
|
XM_011532944.2:c.173C>T
|
XP_011531246.1:p.Ala58Val
|
|
|
XM_011532945.2:c.173C>T
|
XP_011531247.1:p.Ala58Val
|
|
|
XM_017004414.2:c.524C>T
|
XP_016859903.1:p.Ala175Val
|
|
|
XM_017004415.2:c.524C>T
|
XP_016859904.1:p.Ala175Val
|
|
|
XM_017004416.1:c.173C>T
|
XP_016859905.1:p.Ala58Val
|
|
|
XR_001738802.2:n.583C>T
|
|
|
|
XR_001738803.2:n.583C>T
|
|
|
|
XR_002959309.1:n.742+23332C>T
|
|
|
|
XR_939692.2:n.583C>T
|
|
|
|
NM_001374615.1:c.524C>T
|
NP_001361544.1:p.Ala175Val
|
|
|
NM_018062.4:c.524C>T
MANE Select
|
NP_060532.2:p.Ala175Val
|
|
|
NR_164659.1:n.518C>T
|
|
|
