|
NM_052989.3:c.2840G>A
MANE Select
|
NP_443715.1:p.Arg947His
|
|
ENST00000348417.7:c.2840G>A
MANE Select
|
ENSP00000324005.4:p.Arg947His
|
|
NM_001280541.1:c.2819G>A
|
NP_001267470.1:p.Arg940His
|
|
NM_001280541.2:c.2819G>A
|
NP_001267470.1:p.Arg940His
|
|
NM_001280545.1:c.2390G>A
|
NP_001267474.1:p.Arg797His
|
|
NM_001280545.2:c.2390G>A
|
NP_001267474.1:p.Arg797His
|
|
NM_001280546.1:c.2213G>A
|
NP_001267475.1:p.Arg738His
|
|
NM_001280546.2:c.2213G>A
|
NP_001267475.1:p.Arg738His
|
|
NM_018262.3:c.2663G>A
|
NP_060732.2:p.Arg888His
|
|
NM_018262.4:c.2663G>A
|
NP_060732.2:p.Arg888His
|
|
NM_052985.3:c.2993G>A
|
NP_443711.2:p.Arg998His
|
|
NM_052985.4:c.2993G>A
|
NP_443711.2:p.Arg998His
|
|
NM_052989.2:c.2840G>A
|
NP_443715.1:p.Arg947His
|
|
NM_052990.2:c.2510G>A
|
NP_443716.1:p.Arg837His
|
|
NM_052990.3:c.2510G>A
|
NP_443716.1:p.Arg837His
|
|
ENST00000296266.7:c.2993G>A
|
ENSP00000296266.3:p.Arg998His
|
|
ENST00000347300.6:c.2663G>A
|
ENSP00000323973.3:p.Arg888His
|
|
ENST00000348417.6:c.2840G>A
|
ENSP00000324005.3:p.Arg947His
|
|
ENST00000349441.6:c.2510G>A
|
ENSP00000324165.3:p.Arg837His
|
|
ENST00000431818.6:c.2390G>A
|
ENSP00000410946.2:p.Arg797His
|
|
ENST00000431818.8:c.*2102G>A
|
ENSP00000410946.3:n.*2102G>A
|
|
ENST00000440957.6:c.2213G>A
|
ENSP00000401569.2:p.Arg738His
|
|
ENST00000440957.7:c.*2161G>A
|
ENSP00000401569.3:n.*2161G>A
|
|
ENST00000504021.5:c.2471G>A
|
ENSP00000422179.1:p.Arg824His
|
|
ENST00000504021.6:c.2456G>A
|
ENSP00000422179.2:p.Arg819His
|
|
ENST00000504444.2:n.850G>A
|
|
|
ENST00000506507.5:n.2623G>A
|
|
|
ENST00000507221.2:c.926G>A
|
ENSP00000427515.2:p.Arg309His
|
|
ENST00000507564.5:c.2819G>A
|
ENSP00000425536.1:p.Arg940His
|
|
ENST00000511425.5:n.1249G>A
|
|
|
ENST00000512220.5:c.*2748G>A
|
ENSP00000421953.1:n.*2748G>A
|
|
ENST00000513932.2:n.1133G>A
|
|
|
ENST00000515783.6:c.2345G>A
|
ENSP00000423288.2:p.Arg782His
|
|
ENST00000685087.1:c.2399G>A
|
ENSP00000509245.1:p.Arg800His
|
|
ENST00000685122.1:c.929G>A
|
ENSP00000510278.1:p.Arg310His
|
|
ENST00000685189.1:c.*2571G>A
|
ENSP00000510418.1:n.*2571G>A
|
|
ENST00000685282.1:c.*58G>A
|
ENSP00000508642.1:n.*58G>A
|
|
ENST00000685447.1:c.*6+1167G>A
|
ENSP00000509155.1:n.*6+1167G>A
|
|
ENST00000685512.1:n.3555G>A
|
|
|
ENST00000685621.1:n.2425G>A
|
|
|
ENST00000685811.1:n.3581G>A
|
|
|
ENST00000685921.1:c.2552G>A
|
ENSP00000509914.1:p.Arg851His
|
|
ENST00000685939.1:c.*1260G>A
|
ENSP00000509414.1:n.*1260G>A
|
|
ENST00000686375.1:c.*1263G>A
|
ENSP00000510777.1:n.*1263G>A
|
|
ENST00000686473.1:c.2498G>A
|
ENSP00000508526.1:p.Arg833His
|
|
ENST00000686531.1:c.2444G>A
|
ENSP00000510570.1:p.Arg815His
|
|
ENST00000686614.1:n.1387G>A
|
|
|
ENST00000686830.1:c.2501G>A
|
ENSP00000510002.1:p.Arg834His
|
|
ENST00000687377.1:c.2789G>A
|
ENSP00000509225.1:p.Arg930His
|
|
ENST00000687398.1:c.*2298G>A
|
ENSP00000510191.1:n.*2298G>A
|
|
ENST00000687461.1:n.3202G>A
|
|
|
ENST00000687645.1:c.2840G>A
|
ENSP00000510672.1:p.Arg947His
|
|
ENST00000687766.1:c.*432G>A
|
ENSP00000509886.1:n.*432G>A
|
|
ENST00000687791.1:c.2560+1167G>A
|
ENSP00000509224.1:n.2560+1167G>A
|
|
ENST00000687845.1:c.2350G>A
|
ENSP00000508687.1:n.2350G>A
|
|
ENST00000687864.1:n.2860G>A
|
|
|
ENST00000688020.1:c.2684G>A
|
ENSP00000508904.1:p.Arg895His
|
|
ENST00000688129.1:c.*2442G>A
|
ENSP00000509382.1:n.*2442G>A
|
|
ENST00000688266.1:n.2399+1167G>A
|
|
|
ENST00000688392.1:n.3254G>A
|
|
|
ENST00000688504.1:n.2806G>A
|
|
|
ENST00000688527.1:c.983G>A
|
ENSP00000508740.1:p.Arg328His
|
|
ENST00000688657.1:c.818G>A
|
ENSP00000508933.1:p.Arg273His
|
|
ENST00000688664.1:c.*2088G>A
|
ENSP00000510359.1:n.*2088G>A
|
|
ENST00000689005.1:c.2363G>A
|
ENSP00000510168.1:p.Arg788His
|
|
ENST00000689313.1:c.2816G>A
|
ENSP00000509012.1:p.Arg939His
|
|
ENST00000689332.1:c.2666G>A
|
ENSP00000510425.1:p.Arg889His
|
|
ENST00000689384.1:n.3407G>A
|
|
|
ENST00000689492.1:c.2516G>A
|
ENSP00000510239.1:p.Arg839His
|
|
ENST00000689643.1:c.2840G>A
|
ENSP00000509801.1:p.Arg947His
|
|
ENST00000689796.1:c.2504G>A
|
ENSP00000509716.1:p.Arg835His
|
|
ENST00000689801.1:c.2612G>A
|
ENSP00000509982.1:p.Arg871His
|
|
ENST00000689871.1:c.2612G>A
|
ENSP00000510412.1:p.Arg871His
|
|
ENST00000689884.1:n.1827G>A
|
|
|
ENST00000690209.1:c.2666G>A
|
ENSP00000509005.1:p.Arg889His
|
|
ENST00000690617.1:n.2777G>A
|
|
|
ENST00000690657.1:c.980G>A
|
ENSP00000510699.1:p.Arg327His
|
|
ENST00000690663.1:c.2453G>A
|
ENSP00000509297.1:p.Arg818His
|
|
ENST00000690677.1:c.*2122G>A
|
ENSP00000510036.1:n.*2122G>A
|
|
ENST00000690723.1:c.2614+1167G>A
|
ENSP00000508811.1:n.2614+1167G>A
|
|
ENST00000690862.1:c.2609G>A
|
ENSP00000509210.1:p.Arg870His
|
|
ENST00000691148.1:n.3307G>A
|
|
|
ENST00000691360.1:c.*2266G>A
|
ENSP00000510040.1:n.*2266G>A
|
|
ENST00000691583.1:c.2609G>A
|
ENSP00000510741.1:p.Arg870His
|
|
ENST00000691641.1:c.*2388G>A
|
ENSP00000509350.1:n.*2388G>A
|
|
ENST00000691705.1:c.2663G>A
|
ENSP00000510077.1:p.Arg888His
|
|
ENST00000691733.1:c.2663G>A
|
ENSP00000509735.1:p.Arg888His
|
|
ENST00000691770.1:c.*192G>A
|
ENSP00000510126.1:n.*192G>A
|
|
ENST00000691964.1:c.2609G>A
|
ENSP00000509094.1:p.Arg870His
|
|
ENST00000692228.1:c.*1737G>A
|
ENSP00000508464.1:n.*1737G>A
|
|
ENST00000692242.1:c.2843G>A
|
ENSP00000509878.1:p.Arg948His
|
|
ENST00000692321.1:c.2159G>A
|
ENSP00000508614.1:p.Arg720His
|
|
ENST00000692391.1:c.2782G>A
|
ENSP00000509211.1:p.Val928Ile
|
|
ENST00000692508.1:n.3487G>A
|
|
|
ENST00000692728.1:c.2159G>A
|
ENSP00000510105.1:p.Arg720His
|
|
ENST00000692901.1:c.2432G>A
|
ENSP00000510339.1:p.Arg811His
|
|
ENST00000692929.1:n.1694G>A
|
|
|
ENST00000692985.1:c.*2426+1167G>A
|
ENSP00000510460.1:n.*2426+1167G>A
|
|
ENST00000693114.1:c.*1677G>A
|
ENSP00000508738.1:n.*1677G>A
|
|
ENST00000693129.1:c.2786G>A
|
ENSP00000509806.1:p.Arg929His
|
|
ENST00000693162.1:c.2785G>A
|
ENSP00000509103.1:p.Val929Ile
|
|
ENST00000693233.1:c.2213G>A
|
ENSP00000509186.1:p.Arg738His
|
|
ENST00000693489.1:c.2777G>A
|
ENSP00000509656.1:p.Arg926His
|
|
ENST00000693588.1:c.2507G>A
|
ENSP00000509216.1:p.Arg836His
|
|
ENST00000693654.1:n.3077G>A
|
|
|
XM_005247609.1:c.2666G>A
|
XP_005247666.1:p.Arg889His
|
|
XM_005247609.2:c.2666G>A
|
XP_005247666.1:p.Arg889His
|
|
XM_006713689.1:c.2843G>A
|
XP_006713752.1:p.Arg948His
|
|
XM_006713689.2:c.2843G>A
|
XP_006713752.1:p.Arg948His
|
|
XM_006713691.2:c.2789G>A
|
XP_006713754.1:p.Arg930His
|
|
XM_006713691.3:c.2789G>A
|
XP_006713754.1:p.Arg930His
|
|
XM_006713692.2:c.2612G>A
|
XP_006713755.1:p.Arg871His
|
|
XM_006713692.3:c.2612G>A
|
XP_006713755.1:p.Arg871His
|
|
XM_011512967.1:c.2687G>A
|
XP_011511269.1:p.Arg896His
|
|
XM_011512968.1:c.2393G>A
|
XP_011511270.1:p.Arg798His
|
|
XM_011512969.1:c.2393G>A
|
XP_011511271.1:p.Arg798His
|
|
XM_011512970.1:c.2393G>A
|
XP_011511272.1:p.Arg798His
|
|
XM_011512971.1:c.2216G>A
|
XP_011511273.1:p.Arg739His
|
|
XM_011512973.1:c.1439G>A
|
XP_011511275.1:p.Arg480His
|
|
XM_017006817.2:c.2843G>A
|
XP_016862306.1:p.Arg948His
|
|
XM_017006818.2:c.2840G>A
|
XP_016862307.1:p.Arg947His
|
|
XM_017006819.2:c.2789G>A
|
XP_016862308.1:p.Arg930His
|
|
XM_017006820.2:c.2786G>A
|
XP_016862309.1:p.Arg929His
|
|
XM_017006821.2:c.2786G>A
|
XP_016862310.1:p.Arg929His
|
|
XM_017006822.2:c.2687G>A
|
XP_016862311.1:p.Arg896His
|
|
XM_017006823.2:c.2666G>A
|
XP_016862312.1:p.Arg889His
|
|
XM_017006824.2:c.2663G>A
|
XP_016862313.1:p.Arg888His
|
|
XM_017006825.2:c.2612G>A
|
XP_016862314.1:p.Arg871His
|
|
XM_017006826.2:c.2609G>A
|
XP_016862315.1:p.Arg870His
|
|
XM_017006827.2:c.2609G>A
|
XP_016862316.1:p.Arg870His
|
|
XM_017006828.2:c.2510G>A
|
XP_016862317.1:p.Arg837His
|
|
XM_017006829.2:c.2507G>A
|
XP_016862318.1:p.Arg836His
|
|
XM_017006830.2:c.2393G>A
|
XP_016862319.1:p.Arg798His
|
|
XM_017006831.1:c.2393G>A
|
XP_016862320.1:p.Arg798His
|
|
XM_017006832.1:c.2393G>A
|
XP_016862321.1:p.Arg798His
|
|
XM_017006833.2:c.2456G>A
|
XP_016862322.1:p.Arg819His
|
|
XM_017006834.2:c.2453G>A
|
XP_016862323.1:p.Arg818His
|
|
XM_017006835.1:c.2216G>A
|
XP_016862324.1:p.Arg739His
|
|
XM_017006836.2:c.2162G>A
|
XP_016862325.1:p.Arg721His
|
|
XM_017006837.1:c.1439G>A
|
XP_016862326.1:p.Arg480His
|
|
XM_017006838.2:c.1436G>A
|
XP_016862327.1:p.Arg479His
|
|
XM_024453639.1:c.1886G>A
|
XP_024309407.1:p.Arg629His
|
