|
ENST00000341012.13:c.1218C>G
|
ENSP00000343034.7:p.His406Gln
|
|
|
ENST00000404875.7:n.1920C>G
|
|
|
|
ENST00000423007.6:c.1437C>G
|
ENSP00000404119.2:p.His479Gln
|
|
|
ENST00000677295.2:c.*1724C>G
|
ENSP00000504346.2:n.*1724C>G
|
|
|
ENST00000678264.2:c.*1563C>G
|
ENSP00000503157.2:n.*1563C>G
|
|
|
ENST00000682070.1:n.1845C>G
|
|
|
|
ENST00000682539.1:c.318C>G
|
|
|
|
ENST00000682813.1:n.1784C>G
|
|
|
|
ENST00000683392.1:n.4127C>G
|
|
|
|
ENST00000683712.1:n.1785C>G
|
|
|
|
ENST00000683900.1:n.3280C>G
|
|
|
|
ENST00000684062.1:n.2046C>G
|
|
|
|
ENST00000684579.1:n.3226C>G
|
|
|
|
ENST00000684679.1:n.607C>G
|
|
|
|
ENST00000341012.12:c.1218C>G
|
ENSP00000343034.7:p.His406Gln
|
|
|
ENST00000372220.5:c.249C>G
|
ENSP00000361294.5:p.His83Gln
|
|
|
ENST00000372228.9:c.1446C>G
|
ENSP00000361302.3:p.His482Gln
|
|
|
ENST00000402686.8:c.1380C>G
MANE Select
|
ENSP00000385797.4:p.His460Gln
|
|
|
ENST00000676640.1:c.1380C>G
|
ENSP00000503281.1:p.His460Gln
|
|
|
ENST00000676803.1:c.555C>G
|
ENSP00000503093.1:p.His185Gln
|
|
|
ENST00000676835.1:c.*595C>G
|
ENSP00000502911.1:n.*595C>G
|
|
|
ENST00000677029.1:c.924C>G
|
ENSP00000502936.1:p.His308Gln
|
|
|
ENST00000677099.1:c.*1090C>G
|
ENSP00000504553.1:n.*1090C>G
|
|
|
ENST00000677216.1:c.1029C>G
|
ENSP00000503772.1:p.His343Gln
|
|
|
ENST00000677221.1:n.405C>G
|
|
|
|
ENST00000677295.1:c.*757C>G
|
ENSP00000504346.1:n.*757C>G
|
|
|
ENST00000677444.1:c.1325C>G
|
|
|
|
ENST00000677586.1:n.861C>G
|
|
|
|
ENST00000677626.1:c.1029C>G
|
ENSP00000503552.1:p.His343Gln
|
|
|
ENST00000677677.1:n.1340C>G
|
|
|
|
ENST00000677853.1:c.*388C>G
|
ENSP00000503488.1:n.*388C>G
|
|
|
ENST00000678202.1:n.539C>G
|
|
|
|
ENST00000678264.1:c.*757C>G
|
ENSP00000503157.1:n.*757C>G
|
|
|
ENST00000678303.1:c.1290C>G
|
ENSP00000503696.1:p.His430Gln
|
|
|
ENST00000678366.1:c.*1629C>G
|
ENSP00000504353.1:n.*1629C>G
|
|
|
ENST00000678546.1:c.*1325C>G
|
ENSP00000503062.1:n.*1325C>G
|
|
|
ENST00000678548.1:c.*1452C>G
|
ENSP00000503934.1:n.*1452C>G
|
|
|
ENST00000678626.1:n.1216C>G
|
|
|
|
ENST00000678733.1:c.461C>G
|
|
|
|
ENST00000678739.1:c.*1706C>G
|
ENSP00000503806.1:n.*1706C>G
|
|
|
ENST00000678833.1:c.*827C>G
|
ENSP00000503893.1:n.*827C>G
|
|
|
ENST00000679023.1:c.1218C>G
|
ENSP00000503718.1:p.His406Gln
|
|
|
ENST00000679076.1:c.999C>G
|
|
|
|
ENST00000679111.1:c.*136C>G
|
ENSP00000504257.1:n.*136C>G
|
|
|
ENST00000679189.1:c.1029C>G
|
ENSP00000503356.1:p.His343Gln
|
|
|
ENST00000341012.11:c.1218C>G
|
ENSP00000343034.7:p.His406Gln
|
|
|
ENST00000372220.4:c.243C>G
|
ENSP00000361294.4:p.His81Gln
|
|
|
ENST00000372228.7:c.1446C>G
|
ENSP00000361302.3:p.His482Gln
|
|
|
ENST00000402686.7:c.1380C>G
|
ENSP00000385797.3:p.His460Gln
|
|
|
ENST00000404875.6:c.1029C>G
|
ENSP00000384531.2:p.His343Gln
|
|
|
ENST00000423007.5:c.1380C>G
|
ENSP00000404119.1:p.His460Gln
|
|
|
ENST00000467848.1:n.84C>G
|
|
|
|
ENST00000485278.5:n.1935C>G
|
|
|
|
NM_001077365.1:c.1380C>G
|
NP_001070833.1:p.His460Gln
|
|
|
NM_001077366.1:c.1218C>G
|
NP_001070834.1:p.His406Gln
|
|
|
NM_001136113.1:c.1380C>G
|
NP_001129585.1:p.His460Gln
|
|
|
NM_001136114.1:c.1029C>G
|
NP_001129586.1:p.His343Gln
|
|
|
NM_007171.3:c.1446C>G
|
NP_009102.3:p.His482Gln
|
|
|
XM_005272156.1:c.1446C>G
|
XP_005272213.1:p.His482Gln
|
|
|
XM_005272158.1:c.1284C>G
|
XP_005272215.1:p.His428Gln
|
|
|
XM_005272159.1:c.1095C>G
|
XP_005272216.1:p.His365Gln
|
|
|
XM_005272162.1:c.249C>G
|
XP_005272219.1:p.His83Gln
|
|
|
XM_006716932.1:c.1095C>G
|
XP_006716995.1:p.His365Gln
|
|
|
XM_011518140.1:c.1299C>G
|
XP_011516442.1:p.His433Gln
|
|
|
XM_011518141.1:c.1233C>G
|
XP_011516443.1:p.His411Gln
|
|
|
XM_011518142.1:c.1137C>G
|
XP_011516444.1:p.His379Gln
|
|
|
XM_011518143.1:c.1131C>G
|
XP_011516445.1:p.His377Gln
|
|
|
XM_011518144.1:c.*136C>G
|
XP_011516446.1:n.*136C>G
|
|
|
XM_011518145.1:c.990C>G
|
XP_011516447.1:p.His330Gln
|
|
|
XM_011518146.1:c.*136C>G
|
XP_011516448.1:n.*136C>G
|
|
|
XM_011518147.1:c.318C>G
|
XP_011516449.1:p.His106Gln
|
|
|
XR_929703.1:n.1622C>G
|
|
|
|
NM_001353193.1:c.1446C>G
|
NP_001340122.1:p.His482Gln
|
|
|
NM_001353194.1:c.1218C>G
|
NP_001340123.1:p.His406Gln
|
|
|
NM_001353195.1:c.1029C>G
|
NP_001340124.1:p.His343Gln
|
|
|
NM_001353196.1:c.1290C>G
|
NP_001340125.1:p.His430Gln
|
|
|
NM_001353197.1:c.1284C>G
|
NP_001340126.1:p.His428Gln
|
|
|
NM_001353198.1:c.1284C>G
|
NP_001340127.1:p.His428Gln
|
|
|
NM_001353199.1:c.1095C>G
|
NP_001340128.1:p.His365Gln
|
|
|
NM_001353200.1:c.924C>G
|
NP_001340129.1:p.His308Gln
|
|
|
NR_148391.1:n.1430C>G
|
|
|
|
NR_148392.1:n.1648C>G
|
|
|
|
NR_148393.1:n.1569C>G
|
|
|
|
NR_148394.1:n.1323C>G
|
|
|
|
NR_148395.1:n.1721C>G
|
|
|
|
NR_148396.1:n.1355C>G
|
|
|
|
NR_148397.1:n.1480C>G
|
|
|
|
NR_148398.1:n.1435C>G
|
|
|
|
NR_148399.1:n.1961C>G
|
|
|
|
NR_148400.1:n.1560C>G
|
|
|
|
XM_005272162.3:c.249C>G
|
XP_005272219.1:p.His83Gln
|
|
|
XM_006716932.2:c.1095C>G
|
XP_006716995.1:p.His365Gln
|
|
|
XM_011518140.2:c.1299C>G
|
XP_011516442.1:p.His433Gln
|
|
|
XM_011518141.2:c.1233C>G
|
XP_011516443.1:p.His411Gln
|
|
|
XM_011518142.2:c.1137C>G
|
XP_011516444.1:p.His379Gln
|
|
|
XM_011518143.2:c.1131C>G
|
XP_011516445.1:p.His377Gln
|
|
|
XM_011518145.2:c.990C>G
|
XP_011516447.1:p.His330Gln
|
|
|
XM_017014205.2:c.249C>G
|
XP_016869694.1:p.His83Gln
|
|
|
XM_024447380.1:c.249C>G
|
XP_024303148.1:p.His83Gln
|
|
|
XM_024447381.1:c.555C>G
|
XP_024303149.1:p.His185Gln
|
|
|
XM_024447382.1:c.249C>G
|
XP_024303150.1:p.His83Gln
|
|
|
XR_001746160.2:n.1550C>G
|
|
|
|
XR_001746162.2:n.1755C>G
|
|
|
|
XR_001746164.1:n.1472C>G
|
|
|
|
XR_001746166.2:n.1767C>G
|
|
|
|
NM_001077365.2:c.1380C>G
MANE Select
|
NP_001070833.1:p.His460Gln
|
|
|
NM_001077366.2:c.1218C>G
|
NP_001070834.1:p.His406Gln
|
|
|
NM_001136113.2:c.1380C>G
|
NP_001129585.1:p.His460Gln
|
|
|
NM_001136114.2:c.1029C>G
|
NP_001129586.1:p.His343Gln
|
|
|
NM_001353193.2:c.1446C>G
|
NP_001340122.2:p.His482Gln
|
|
|
NM_001353194.2:c.1218C>G
|
NP_001340123.1:p.His406Gln
|
|
|
NM_001353195.2:c.1029C>G
|
NP_001340124.1:p.His343Gln
|
|
|
NM_001353196.2:c.1290C>G
|
NP_001340125.1:p.His430Gln
|
|
|
NM_001353197.2:c.1284C>G
|
NP_001340126.2:p.His428Gln
|
|
|
NM_001353198.2:c.1284C>G
|
NP_001340127.2:p.His428Gln
|
|
|
NM_001353199.2:c.1095C>G
|
NP_001340128.2:p.His365Gln
|
|
|
NM_001353200.2:c.924C>G
|
NP_001340129.1:p.His308Gln
|
|
|
NM_001374689.1:c.1368C>G
|
NP_001361618.1:p.His456Gln
|
|
|
NM_001374690.1:c.1365+314C>G
|
NP_001361619.1:n.1365+314C>G
|
|
|
NM_001374691.1:c.1029C>G
|
NP_001361620.1:p.His343Gln
|
|
|
NM_001374692.1:c.1029C>G
|
NP_001361621.1:p.His343Gln
|
|
|
NM_001374693.1:c.1029C>G
|
NP_001361622.1:p.His343Gln
|
|
|
NM_001374695.1:c.990C>G
|
NP_001361624.1:p.His330Gln
|
|
|
NM_007171.4:c.1446C>G
|
NP_009102.4:p.His482Gln
|
|
|
NR_148391.2:n.1414C>G
|
|
|
|
NR_148392.2:n.1632C>G
|
|
|
|
NR_148393.2:n.1553C>G
|
|
|
|
NR_148394.2:n.1307C>G
|
|
|
|
NR_148395.2:n.1705C>G
|
|
|
|
NR_148396.2:n.1339C>G
|
|
|
|
NR_148397.2:n.1464C>G
|
|
|
|
NR_148398.2:n.1419C>G
|
|
|
|
NR_148399.2:n.1945C>G
|
|
|
|
NR_148400.2:n.1544C>G
|
|
|
