|
NM_052989.3:c.3051C>T
MANE Select
|
NP_443715.1:p.His1017=
|
|
ENST00000348417.7:c.3051C>T
MANE Select
|
ENSP00000324005.4:p.His1017=
|
|
NM_001280541.1:c.3030C>T
|
NP_001267470.1:p.His1010=
|
|
NM_001280541.2:c.3030C>T
|
NP_001267470.1:p.His1010=
|
|
NM_001280545.1:c.2601C>T
|
NP_001267474.1:p.His867=
|
|
NM_001280545.2:c.2601C>T
|
NP_001267474.1:p.His867=
|
|
NM_001280546.1:c.2424C>T
|
NP_001267475.1:p.His808=
|
|
NM_001280546.2:c.2424C>T
|
NP_001267475.1:p.His808=
|
|
NM_018262.3:c.2874C>T
|
NP_060732.2:p.His958=
|
|
NM_018262.4:c.2874C>T
|
NP_060732.2:p.His958=
|
|
NM_052985.3:c.3204C>T
|
NP_443711.2:p.His1068=
|
|
NM_052985.4:c.3204C>T
|
NP_443711.2:p.His1068=
|
|
NM_052989.2:c.3051C>T
|
NP_443715.1:p.His1017=
|
|
NM_052990.2:c.2721C>T
|
NP_443716.1:p.His907=
|
|
NM_052990.3:c.2721C>T
|
NP_443716.1:p.His907=
|
|
ENST00000296266.7:c.3204C>T
|
ENSP00000296266.3:p.His1068=
|
|
ENST00000347300.6:c.2874C>T
|
ENSP00000323973.3:p.His958=
|
|
ENST00000348417.6:c.3051C>T
|
ENSP00000324005.3:p.His1017=
|
|
ENST00000349441.6:c.2721C>T
|
ENSP00000324165.3:p.His907=
|
|
ENST00000431818.6:c.2601C>T
|
ENSP00000410946.2:p.His867=
|
|
ENST00000431818.8:c.*2313C>T
|
ENSP00000410946.3:n.*2313C>T
|
|
ENST00000440957.6:c.2424C>T
|
ENSP00000401569.2:p.His808=
|
|
ENST00000440957.7:c.*2372C>T
|
ENSP00000401569.3:n.*2372C>T
|
|
ENST00000504021.5:c.2682C>T
|
ENSP00000422179.1:p.His894=
|
|
ENST00000504021.6:c.2667C>T
|
ENSP00000422179.2:p.His889=
|
|
ENST00000504444.1:n.96C>T
|
|
|
ENST00000504444.2:n.1061C>T
|
|
|
ENST00000506507.5:n.2834C>T
|
|
|
ENST00000507221.2:c.1137C>T
|
ENSP00000427515.2:p.His379=
|
|
ENST00000507564.5:c.3030C>T
|
ENSP00000425536.1:p.His1010=
|
|
ENST00000511425.5:n.1460C>T
|
|
|
ENST00000512220.5:c.*2959C>T
|
ENSP00000421953.1:n.*2959C>T
|
|
ENST00000513190.1:n.2095C>T
|
|
|
ENST00000513932.2:n.1344C>T
|
|
|
ENST00000515783.6:c.2556C>T
|
ENSP00000423288.2:p.His852=
|
|
ENST00000685087.1:c.2546+2040C>T
|
ENSP00000509245.1:n.2546+2040C>T
|
|
ENST00000685122.1:c.1140C>T
|
ENSP00000510278.1:p.His380=
|
|
ENST00000685189.1:c.*2782C>T
|
ENSP00000510418.1:n.*2782C>T
|
|
ENST00000685282.1:c.*269C>T
|
ENSP00000508642.1:n.*269C>T
|
|
ENST00000685447.1:c.*171C>T
|
ENSP00000509155.1:n.*171C>T
|
|
ENST00000685512.1:n.3766C>T
|
|
|
ENST00000685621.1:n.2572+2040C>T
|
|
|
ENST00000685811.1:n.3792C>T
|
|
|
ENST00000685921.1:c.2763C>T
|
ENSP00000509914.1:p.His921=
|
|
ENST00000685939.1:c.*1471C>T
|
ENSP00000509414.1:n.*1471C>T
|
|
ENST00000686375.1:c.*1474C>T
|
ENSP00000510777.1:n.*1474C>T
|
|
ENST00000686473.1:c.2709C>T
|
ENSP00000508526.1:p.His903=
|
|
ENST00000686531.1:c.2655C>T
|
ENSP00000510570.1:p.His885=
|
|
ENST00000686614.1:n.1598C>T
|
|
|
ENST00000686830.1:c.2712C>T
|
ENSP00000510002.1:p.His904=
|
|
ENST00000687377.1:c.3000C>T
|
ENSP00000509225.1:p.His1000=
|
|
ENST00000687398.1:c.*2509C>T
|
ENSP00000510191.1:n.*2509C>T
|
|
ENST00000687461.1:n.3413C>T
|
|
|
ENST00000687645.1:c.3049C>T
|
ENSP00000510672.1:p.Arg1017Cys
|
|
ENST00000687766.1:c.*643C>T
|
ENSP00000509886.1:n.*643C>T
|
|
ENST00000687791.1:c.*136C>T
|
ENSP00000509224.1:n.*136C>T
|
|
ENST00000687845.1:c.2561C>T
|
ENSP00000508687.1:n.2561C>T
|
|
ENST00000687864.1:n.3071C>T
|
|
|
ENST00000688020.1:c.2895C>T
|
ENSP00000508904.1:p.His965=
|
|
ENST00000688129.1:c.*2653C>T
|
ENSP00000509382.1:n.*2653C>T
|
|
ENST00000688266.1:n.2564C>T
|
|
|
ENST00000688392.1:n.3465C>T
|
|
|
ENST00000688504.1:n.3017C>T
|
|
|
ENST00000688527.1:c.1194C>T
|
ENSP00000508740.1:p.His398=
|
|
ENST00000688657.1:c.1029C>T
|
ENSP00000508933.1:p.His343=
|
|
ENST00000688664.1:c.*2299C>T
|
ENSP00000510359.1:n.*2299C>T
|
|
ENST00000689005.1:c.2574C>T
|
ENSP00000510168.1:p.His858=
|
|
ENST00000689313.1:c.3027C>T
|
ENSP00000509012.1:p.His1009=
|
|
ENST00000689332.1:c.2877C>T
|
ENSP00000510425.1:p.His959=
|
|
ENST00000689384.1:n.3618C>T
|
|
|
ENST00000689492.1:c.2727C>T
|
ENSP00000510239.1:p.His909=
|
|
ENST00000689643.1:c.3051C>T
|
ENSP00000509801.1:p.His1017=
|
|
ENST00000689796.1:c.2715C>T
|
ENSP00000509716.1:p.His905=
|
|
ENST00000689801.1:c.2823C>T
|
ENSP00000509982.1:p.His941=
|
|
ENST00000689871.1:c.2823C>T
|
ENSP00000510412.1:p.His941=
|
|
ENST00000689884.1:n.2038C>T
|
|
|
ENST00000690209.1:c.2813+2040C>T
|
ENSP00000509005.1:n.2813+2040C>T
|
|
ENST00000690617.1:n.2988C>T
|
|
|
ENST00000690657.1:c.1191C>T
|
ENSP00000510699.1:p.His397=
|
|
ENST00000690663.1:c.2664C>T
|
ENSP00000509297.1:p.His888=
|
|
ENST00000690677.1:c.*2333C>T
|
ENSP00000510036.1:n.*2333C>T
|
|
ENST00000690723.1:c.*136C>T
|
ENSP00000508811.1:n.*136C>T
|
|
ENST00000690862.1:c.2820C>T
|
ENSP00000509210.1:p.His940=
|
|
ENST00000691148.1:n.3518C>T
|
|
|
ENST00000691360.1:c.*2477C>T
|
ENSP00000510040.1:n.*2477C>T
|
|
ENST00000691583.1:c.2820C>T
|
ENSP00000510741.1:p.His940=
|
|
ENST00000691641.1:c.*2599C>T
|
ENSP00000509350.1:n.*2599C>T
|
|
ENST00000691705.1:c.2810+2040C>T
|
ENSP00000510077.1:n.2810+2040C>T
|
|
ENST00000691733.1:c.2874C>T
|
ENSP00000509735.1:p.His958=
|
|
ENST00000691770.1:c.*403C>T
|
ENSP00000510126.1:n.*403C>T
|
|
ENST00000691964.1:c.2820C>T
|
ENSP00000509094.1:p.His940=
|
|
ENST00000692228.1:c.*1948C>T
|
ENSP00000508464.1:n.*1948C>T
|
|
ENST00000692242.1:c.3054C>T
|
ENSP00000509878.1:p.His1018=
|
|
ENST00000692321.1:c.2370C>T
|
ENSP00000508614.1:p.His790=
|
|
ENST00000692391.1:c.*62C>T
|
ENSP00000509211.1:n.*62C>T
|
|
ENST00000692508.1:n.3698C>T
|
|
|
ENST00000692728.1:c.2370C>T
|
ENSP00000510105.1:p.His790=
|
|
ENST00000692901.1:c.2643C>T
|
ENSP00000510339.1:p.His881=
|
|
ENST00000692929.1:n.1905C>T
|
|
|
ENST00000692985.1:c.*2591C>T
|
ENSP00000510460.1:n.*2591C>T
|
|
ENST00000693114.1:c.*1888C>T
|
ENSP00000508738.1:n.*1888C>T
|
|
ENST00000693129.1:c.2997C>T
|
ENSP00000509806.1:p.His999=
|
|
ENST00000693162.1:c.*62C>T
|
ENSP00000509103.1:n.*62C>T
|
|
ENST00000693233.1:c.2424C>T
|
ENSP00000509186.1:p.His808=
|
|
ENST00000693489.1:c.2988C>T
|
ENSP00000509656.1:p.His996=
|
|
ENST00000693588.1:c.2718C>T
|
ENSP00000509216.1:p.His906=
|
|
ENST00000693654.1:n.3288C>T
|
|
|
XM_005247609.1:c.2877C>T
|
XP_005247666.1:p.His959=
|
|
XM_005247609.2:c.2877C>T
|
XP_005247666.1:p.His959=
|
|
XM_006713689.1:c.3054C>T
|
XP_006713752.1:p.His1018=
|
|
XM_006713689.2:c.3054C>T
|
XP_006713752.1:p.His1018=
|
|
XM_006713691.2:c.3000C>T
|
XP_006713754.1:p.His1000=
|
|
XM_006713691.3:c.3000C>T
|
XP_006713754.1:p.His1000=
|
|
XM_006713692.2:c.2823C>T
|
XP_006713755.1:p.His941=
|
|
XM_006713692.3:c.2823C>T
|
XP_006713755.1:p.His941=
|
|
XM_011512967.1:c.2898C>T
|
XP_011511269.1:p.His966=
|
|
XM_011512968.1:c.2604C>T
|
XP_011511270.1:p.His868=
|
|
XM_011512969.1:c.2604C>T
|
XP_011511271.1:p.His868=
|
|
XM_011512970.1:c.2604C>T
|
XP_011511272.1:p.His868=
|
|
XM_011512971.1:c.2427C>T
|
XP_011511273.1:p.His809=
|
|
XM_011512973.1:c.1650C>T
|
XP_011511275.1:p.His550=
|
|
XM_017006817.2:c.3054C>T
|
XP_016862306.1:p.His1018=
|
|
XM_017006818.2:c.3051C>T
|
XP_016862307.1:p.His1017=
|
|
XM_017006819.2:c.3000C>T
|
XP_016862308.1:p.His1000=
|
|
XM_017006820.2:c.2997C>T
|
XP_016862309.1:p.His999=
|
|
XM_017006821.2:c.2997C>T
|
XP_016862310.1:p.His999=
|
|
XM_017006822.2:c.2898C>T
|
XP_016862311.1:p.His966=
|
|
XM_017006823.2:c.2877C>T
|
XP_016862312.1:p.His959=
|
|
XM_017006824.2:c.2874C>T
|
XP_016862313.1:p.His958=
|
|
XM_017006825.2:c.2823C>T
|
XP_016862314.1:p.His941=
|
|
XM_017006826.2:c.2820C>T
|
XP_016862315.1:p.His940=
|
|
XM_017006827.2:c.2820C>T
|
XP_016862316.1:p.His940=
|
|
XM_017006828.2:c.2721C>T
|
XP_016862317.1:p.His907=
|
|
XM_017006829.2:c.2718C>T
|
XP_016862318.1:p.His906=
|
|
XM_017006830.2:c.2604C>T
|
XP_016862319.1:p.His868=
|
|
XM_017006831.1:c.2604C>T
|
XP_016862320.1:p.His868=
|
|
XM_017006832.1:c.2604C>T
|
XP_016862321.1:p.His868=
|
|
XM_017006833.2:c.2667C>T
|
XP_016862322.1:p.His889=
|
|
XM_017006834.2:c.2664C>T
|
XP_016862323.1:p.His888=
|
|
XM_017006835.1:c.2427C>T
|
XP_016862324.1:p.His809=
|
|
XM_017006836.2:c.2373C>T
|
XP_016862325.1:p.His791=
|
|
XM_017006837.1:c.1650C>T
|
XP_016862326.1:p.His550=
|
|
XM_017006838.2:c.1647C>T
|
XP_016862327.1:p.His549=
|
|
XM_024453639.1:c.2097C>T
|
XP_024309407.1:p.His699=
|
