|
ENST00000413726.6:c.681A>T
|
ENSP00000397528.2:p.Gln227His
|
|
|
ENST00000440732.6:c.681A>T
|
ENSP00000396869.2:p.Gln227His
|
|
|
ENST00000444430.3:c.550+4071A>T
|
ENSP00000394434.3:n.550+4071A>T
|
|
|
ENST00000447616.6:c.571A>T
|
ENSP00000388306.2:p.Asn191Tyr
|
|
|
ENST00000450491.6:c.327A>T
|
ENSP00000391709.2:p.Gln109His
|
|
|
ENST00000696067.1:c.681A>T
|
ENSP00000512369.1:p.Gln227His
|
|
|
ENST00000696068.1:c.571A>T
|
ENSP00000512370.1:p.Asn191Tyr
|
|
|
ENST00000696069.1:c.636A>T
|
ENSP00000512371.1:p.Gln212His
|
|
|
ENST00000696085.1:c.813A>T
|
ENSP00000512381.1:p.Gln271His
|
|
|
ENST00000696087.1:c.636A>T
|
ENSP00000512382.1:p.Gln212His
|
|
|
ENST00000673742.1:c.681A>T
MANE Select
|
ENSP00000501268.1:p.Gln227His
|
|
|
ENST00000264274.13:c.550+4071A>T
|
ENSP00000264274.9:n.550+4071A>T
|
|
|
ENST00000264275.9:c.732A>T
|
ENSP00000264275.5:p.Gln244His
|
|
|
ENST00000323492.11:c.636A>T
|
ENSP00000325722.7:p.Gln212His
|
|
|
ENST00000339403.6:n.766A>T
|
|
|
|
ENST00000358485.8:c.858A>T
|
ENSP00000351273.4:p.Gln286His
|
|
|
ENST00000392258.7:c.616A>T
|
ENSP00000376087.3:p.Asn206Tyr
|
|
|
ENST00000392263.6:c.636A>T
|
ENSP00000376091.2:p.Gln212His
|
|
|
ENST00000392266.7:c.636A>T
|
ENSP00000376094.4:p.Gln212His
|
|
|
ENST00000424461.5:c.160A>T
|
ENSP00000390346.1:p.Asn54Tyr
|
|
|
ENST00000432109.6:c.681A>T
|
ENSP00000412523.2:p.Gln227His
|
|
|
ENST00000444430.2:c.139+4071A>T
|
ENSP00000394434.2:n.139+4071A>T
|
|
|
ENST00000447616.5:c.571A>T
|
ENSP00000388306.1:p.Asn191Tyr
|
|
|
ENST00000450491.5:c.327A>T
|
ENSP00000391709.1:p.Gln109His
|
|
|
NM_001080124.1:c.636A>T
|
NP_001073593.1:p.Gln212His
|
|
|
NM_001080125.1:c.858A>T
|
NP_001073594.1:p.Gln286His
|
|
|
NM_001228.4:c.732A>T , LRG_34t1:c.732A>T
|
NP_001219.2:p.Gln244His
|
|
|
NM_033355.3:c.681A>T , LRG_34t2:c.681A>T
|
NP_203519.1:p.Gln227His
|
|
|
NM_033356.3:c.636A>T
|
NP_203520.1:p.Gln212His
|
|
|
NM_033358.3:c.616A>T
|
NP_203522.1:p.Asn206Tyr
|
|
|
NR_111983.1:n.1059A>T
|
|
|
|
XM_005246885.1:c.813A>T
|
XP_005246942.1:p.Gln271His
|
|
|
XM_005246886.1:c.681A>T
|
XP_005246943.1:p.Gln227His
|
|
|
XM_005246887.1:c.681A>T
|
XP_005246944.1:p.Gln227His
|
|
|
XM_005246888.1:c.681A>T
|
XP_005246945.1:p.Gln227His
|
|
|
XM_005246889.1:c.681A>T
|
XP_005246946.1:p.Gln227His
|
|
|
XM_005246890.2:c.681A>T
|
XP_005246947.1:p.Gln227His
|
|
|
XM_005246891.3:c.681A>T
|
XP_005246948.1:p.Gln227His
|
|
|
XM_005246892.1:c.636A>T
|
XP_005246949.1:p.Gln212His
|
|
|
XM_005246893.2:c.793A>T
|
XP_005246950.1:p.Asn265Tyr
|
|
|
XM_005246894.2:c.84A>T
|
XP_005246951.1:p.Gln28His
|
|
|
XM_005246895.2:c.748A>T
|
XP_005246952.1:p.Asn250Tyr
|
|
|
XM_006712789.1:c.681A>T
|
XP_006712852.1:p.Gln227His
|
|
|
XM_006712790.2:c.681A>T
|
XP_006712853.1:p.Gln227His
|
|
|
XM_006712791.1:c.727+4071A>T
|
XP_006712854.1:n.727+4071A>T
|
|
|
XM_006712793.2:c.616A>T
|
XP_006712856.1:p.Asn206Tyr
|
|
|
XM_011511968.1:c.858A>T
|
XP_011510270.1:p.Gln286His
|
|
|
XM_011511969.1:c.246A>T
|
XP_011510271.1:p.Gln82His
|
|
|
XM_011511970.1:c.793A>T
|
XP_011510272.1:p.Asn265Tyr
|
|
|
XR_923035.1:n.814A>T
|
|
|
|
XM_005246885.2:c.813A>T
|
XP_005246942.1:p.Gln271His
|
|
|
XM_005246886.2:c.681A>T
|
XP_005246943.1:p.Gln227His
|
|
|
XM_005246887.2:c.681A>T
|
XP_005246944.1:p.Gln227His
|
|
|
XM_005246888.2:c.681A>T
|
XP_005246945.1:p.Gln227His
|
|
|
XM_005246889.2:c.681A>T
|
XP_005246946.1:p.Gln227His
|
|
|
XM_005246890.4:c.681A>T
|
XP_005246947.1:p.Gln227His
|
|
|
XM_005246891.5:c.681A>T
|
XP_005246948.1:p.Gln227His
|
|
|
XM_005246892.2:c.636A>T
|
XP_005246949.1:p.Gln212His
|
|
|
XM_005246893.3:c.793A>T
|
XP_005246950.1:p.Asn265Tyr
|
|
|
XM_005246894.4:c.84A>T
|
XP_005246951.1:p.Gln28His
|
|
|
XM_005246895.3:c.748A>T
|
XP_005246952.1:p.Asn250Tyr
|
|
|
XM_006712789.2:c.681A>T
|
XP_006712852.1:p.Gln227His
|
|
|
XM_006712790.4:c.681A>T
|
XP_006712853.1:p.Gln227His
|
|
|
XM_006712793.3:c.616A>T
|
XP_006712856.1:p.Asn206Tyr
|
|
|
XM_011511969.2:c.246A>T
|
XP_011510271.1:p.Gln82His
|
|
|
XR_001738971.1:n.892A>T
|
|
|
|
NM_001080124.2:c.636A>T
|
NP_001073593.1:p.Gln212His
|
|
|
NM_001080125.2:c.858A>T
|
NP_001073594.1:p.Gln286His
|
|
|
NM_001372051.1:c.681A>T
MANE Select
|
NP_001358980.1:p.Gln227His
|
|
|
NM_033356.4:c.636A>T
|
NP_203520.1:p.Gln212His
|
|
|
NM_033358.4:c.616A>T
|
NP_203522.1:p.Asn206Tyr
|
|
|
NR_111983.2:n.1055A>T
|
|
|
|
NM_001400642.1:c.813A>T
|
NP_001387571.1:p.Gln271His
|
|
|
NM_001400645.1:c.714A>T
|
NP_001387574.1:p.Gln238His
|
|
|
NM_001400648.1:c.681A>T
|
NP_001387577.1:p.Gln227His
|
|
|
NM_001400651.1:c.681A>T
|
NP_001387580.1:p.Gln227His
|
|
|
NM_001400653.1:c.681A>T
|
NP_001387582.1:p.Gln227His
|
|
|
NM_001400654.1:c.681A>T
|
NP_001387583.1:p.Gln227His
|
|
|
NM_001400655.1:c.681A>T
|
NP_001387584.1:p.Gln227His
|
|
|
NM_001400656.1:c.681A>T
|
NP_001387585.1:p.Gln227His
|
|
|
NM_001400657.1:c.681A>T
|
NP_001387586.1:p.Gln227His
|
|
|
NM_001400658.1:c.636A>T
|
NP_001387587.1:p.Gln212His
|
|
|
NM_001400659.1:c.636A>T
|
NP_001387588.1:p.Gln212His
|
|
|
NM_001400660.1:c.636A>T
|
NP_001387589.1:p.Gln212His
|
|
|
NM_001400661.1:c.636A>T
|
NP_001387590.1:p.Gln212His
|
|
|
NM_001400662.1:c.636A>T
|
NP_001387591.1:p.Gln212His
|
|
|
NM_001400663.1:c.636A>T
|
NP_001387592.1:p.Gln212His
|
|
|
NM_001400664.1:c.612A>T
|
NP_001387593.1:p.Gln204His
|
|
|
NM_001400665.1:c.727+4071A>T
|
NP_001387594.1:n.727+4071A>T
|
|
|
NM_001400666.1:c.595+3905A>T
|
NP_001387595.1:n.595+3905A>T
|
|
|
NM_001400667.1:c.550+4071A>T
|
NP_001387596.1:n.550+4071A>T
|
|
|
NM_001400668.1:c.550+4071A>T
|
NP_001387597.1:n.550+4071A>T
|
|
|
NM_001400669.1:c.372A>T
|
NP_001387598.1:p.Gln124His
|
|
|
NM_001400670.1:c.681A>T
|
NP_001387599.1:p.Gln227His
|
|
|
NM_001400671.1:c.84A>T
|
NP_001387600.1:p.Gln28His
|
|
|
NM_001400672.1:c.84A>T
|
NP_001387601.1:p.Gln28His
|
|
|
NM_001400673.1:c.84A>T
|
NP_001387602.1:p.Gln28His
|
|
|
NM_001400674.1:c.66A>T
|
NP_001387603.1:p.Gln22His
|
|
|
NM_001400675.1:c.39A>T
|
NP_001387604.1:p.Gln13His
|
|
|
NM_001400676.1:c.39A>T
|
NP_001387605.1:p.Gln13His
|
|
|
NM_001400677.1:c.39A>T
|
NP_001387606.1:p.Gln13His
|
|
|
NM_001400678.1:c.39A>T
|
NP_001387607.1:p.Gln13His
|
|
|
NM_001400679.1:c.616A>T
|
NP_001387608.1:p.Asn206Tyr
|
|
|
NM_001400680.1:c.66A>T
|
NP_001387609.1:p.Gln22His
|
|
|
NM_001400750.1:c.84A>T
|
NP_001387679.1:p.Gln28His
|
|
|
NM_001400751.1:c.39A>T
|
NP_001387680.1:p.Gln13His
|
|
|
NR_174564.1:n.634A>T
|
|
|
|
NR_174565.1:n.764A>T
|
|
|
|
NR_174581.1:n.790A>T
|
|
|
|
NR_174583.1:n.896A>T
|
|
|
|
NR_174584.1:n.945A>T
|
|
|
|
NR_174585.1:n.827A>T
|
|
|
|
NR_174586.1:n.801A>T
|
|
|
|
NR_174588.1:n.964A>T
|
|
|
|
NR_174589.1:n.759A>T
|
|
|
|
NR_174590.1:n.851A>T
|
|
|
|
NR_174591.1:n.782A>T
|
|
|
|
NR_174592.1:n.1127A>T
|
|
|
|
NR_174593.1:n.925A>T
|
|
|
|
NR_174594.1:n.968A>T
|
|
|
|
NR_174595.1:n.883A>T
|
|
|
|
NR_174596.1:n.720A>T
|
|
|
|
NR_174598.1:n.1078A>T
|
|
|
|
NR_174599.1:n.719+1894A>T
|
|
|
|
NR_174600.1:n.990A>T
|
|
|
|
NR_174601.1:n.915A>T
|
|
|
|
NR_174602.1:n.785A>T
|
|
|
