|
ENST00000341012.13:c.1216C>T
|
ENSP00000343034.7:p.His406Tyr
|
|
|
ENST00000404875.7:n.1918C>T
|
|
|
|
ENST00000423007.6:c.1435C>T
|
ENSP00000404119.2:p.His479Tyr
|
|
|
ENST00000677295.2:c.*1722C>T
|
ENSP00000504346.2:n.*1722C>T
|
|
|
ENST00000678264.2:c.*1561C>T
|
ENSP00000503157.2:n.*1561C>T
|
|
|
ENST00000682070.1:n.1843C>T
|
|
|
|
ENST00000682539.1:c.316C>T
|
|
|
|
ENST00000682813.1:n.1782C>T
|
|
|
|
ENST00000683392.1:n.4125C>T
|
|
|
|
ENST00000683712.1:n.1783C>T
|
|
|
|
ENST00000683900.1:n.3278C>T
|
|
|
|
ENST00000684062.1:n.2044C>T
|
|
|
|
ENST00000684579.1:n.3224C>T
|
|
|
|
ENST00000684679.1:n.605C>T
|
|
|
|
ENST00000341012.12:c.1216C>T
|
ENSP00000343034.7:p.His406Tyr
|
|
|
ENST00000372220.5:c.247C>T
|
ENSP00000361294.5:p.His83Tyr
|
|
|
ENST00000372228.9:c.1444C>T
|
ENSP00000361302.3:p.His482Tyr
|
|
|
ENST00000402686.8:c.1378C>T
MANE Select
|
ENSP00000385797.4:p.His460Tyr
|
|
|
ENST00000676640.1:c.1378C>T
|
ENSP00000503281.1:p.His460Tyr
|
|
|
ENST00000676803.1:c.553C>T
|
ENSP00000503093.1:p.His185Tyr
|
|
|
ENST00000676835.1:c.*593C>T
|
ENSP00000502911.1:n.*593C>T
|
|
|
ENST00000677029.1:c.922C>T
|
ENSP00000502936.1:p.His308Tyr
|
|
|
ENST00000677099.1:c.*1088C>T
|
ENSP00000504553.1:n.*1088C>T
|
|
|
ENST00000677216.1:c.1027C>T
|
ENSP00000503772.1:p.His343Tyr
|
|
|
ENST00000677221.1:n.403C>T
|
|
|
|
ENST00000677295.1:c.*755C>T
|
ENSP00000504346.1:n.*755C>T
|
|
|
ENST00000677444.1:c.1323C>T
|
|
|
|
ENST00000677586.1:n.859C>T
|
|
|
|
ENST00000677626.1:c.1027C>T
|
ENSP00000503552.1:p.His343Tyr
|
|
|
ENST00000677677.1:n.1338C>T
|
|
|
|
ENST00000677853.1:c.*386C>T
|
ENSP00000503488.1:n.*386C>T
|
|
|
ENST00000678202.1:n.537C>T
|
|
|
|
ENST00000678264.1:c.*755C>T
|
ENSP00000503157.1:n.*755C>T
|
|
|
ENST00000678303.1:c.1288C>T
|
ENSP00000503696.1:p.His430Tyr
|
|
|
ENST00000678366.1:c.*1627C>T
|
ENSP00000504353.1:n.*1627C>T
|
|
|
ENST00000678546.1:c.*1323C>T
|
ENSP00000503062.1:n.*1323C>T
|
|
|
ENST00000678548.1:c.*1450C>T
|
ENSP00000503934.1:n.*1450C>T
|
|
|
ENST00000678626.1:n.1214C>T
|
|
|
|
ENST00000678733.1:c.459C>T
|
|
|
|
ENST00000678739.1:c.*1704C>T
|
ENSP00000503806.1:n.*1704C>T
|
|
|
ENST00000678833.1:c.*825C>T
|
ENSP00000503893.1:n.*825C>T
|
|
|
ENST00000679023.1:c.1216C>T
|
ENSP00000503718.1:p.His406Tyr
|
|
|
ENST00000679076.1:c.997C>T
|
|
|
|
ENST00000679111.1:c.*134C>T
|
ENSP00000504257.1:n.*134C>T
|
|
|
ENST00000679189.1:c.1027C>T
|
ENSP00000503356.1:p.His343Tyr
|
|
|
ENST00000341012.11:c.1216C>T
|
ENSP00000343034.7:p.His406Tyr
|
|
|
ENST00000372220.4:c.241C>T
|
ENSP00000361294.4:p.His81Tyr
|
|
|
ENST00000372228.7:c.1444C>T
|
ENSP00000361302.3:p.His482Tyr
|
|
|
ENST00000402686.7:c.1378C>T
|
ENSP00000385797.3:p.His460Tyr
|
|
|
ENST00000404875.6:c.1027C>T
|
ENSP00000384531.2:p.His343Tyr
|
|
|
ENST00000423007.5:c.1378C>T
|
ENSP00000404119.1:p.His460Tyr
|
|
|
ENST00000467848.1:n.82C>T
|
|
|
|
ENST00000485278.5:n.1933C>T
|
|
|
|
NM_001077365.1:c.1378C>T
|
NP_001070833.1:p.His460Tyr
|
|
|
NM_001077366.1:c.1216C>T
|
NP_001070834.1:p.His406Tyr
|
|
|
NM_001136113.1:c.1378C>T
|
NP_001129585.1:p.His460Tyr
|
|
|
NM_001136114.1:c.1027C>T
|
NP_001129586.1:p.His343Tyr
|
|
|
NM_007171.3:c.1444C>T
|
NP_009102.3:p.His482Tyr
|
|
|
XM_005272156.1:c.1444C>T
|
XP_005272213.1:p.His482Tyr
|
|
|
XM_005272158.1:c.1282C>T
|
XP_005272215.1:p.His428Tyr
|
|
|
XM_005272159.1:c.1093C>T
|
XP_005272216.1:p.His365Tyr
|
|
|
XM_005272162.1:c.247C>T
|
XP_005272219.1:p.His83Tyr
|
|
|
XM_006716932.1:c.1093C>T
|
XP_006716995.1:p.His365Tyr
|
|
|
XM_011518140.1:c.1297C>T
|
XP_011516442.1:p.His433Tyr
|
|
|
XM_011518141.1:c.1231C>T
|
XP_011516443.1:p.His411Tyr
|
|
|
XM_011518142.1:c.1135C>T
|
XP_011516444.1:p.His379Tyr
|
|
|
XM_011518143.1:c.1129C>T
|
XP_011516445.1:p.His377Tyr
|
|
|
XM_011518144.1:c.*134C>T
|
XP_011516446.1:n.*134C>T
|
|
|
XM_011518145.1:c.988C>T
|
XP_011516447.1:p.His330Tyr
|
|
|
XM_011518146.1:c.*134C>T
|
XP_011516448.1:n.*134C>T
|
|
|
XM_011518147.1:c.316C>T
|
XP_011516449.1:p.His106Tyr
|
|
|
XR_929703.1:n.1620C>T
|
|
|
|
NM_001353193.1:c.1444C>T
|
NP_001340122.1:p.His482Tyr
|
|
|
NM_001353194.1:c.1216C>T
|
NP_001340123.1:p.His406Tyr
|
|
|
NM_001353195.1:c.1027C>T
|
NP_001340124.1:p.His343Tyr
|
|
|
NM_001353196.1:c.1288C>T
|
NP_001340125.1:p.His430Tyr
|
|
|
NM_001353197.1:c.1282C>T
|
NP_001340126.1:p.His428Tyr
|
|
|
NM_001353198.1:c.1282C>T
|
NP_001340127.1:p.His428Tyr
|
|
|
NM_001353199.1:c.1093C>T
|
NP_001340128.1:p.His365Tyr
|
|
|
NM_001353200.1:c.922C>T
|
NP_001340129.1:p.His308Tyr
|
|
|
NR_148391.1:n.1428C>T
|
|
|
|
NR_148392.1:n.1646C>T
|
|
|
|
NR_148393.1:n.1567C>T
|
|
|
|
NR_148394.1:n.1321C>T
|
|
|
|
NR_148395.1:n.1719C>T
|
|
|
|
NR_148396.1:n.1353C>T
|
|
|
|
NR_148397.1:n.1478C>T
|
|
|
|
NR_148398.1:n.1433C>T
|
|
|
|
NR_148399.1:n.1959C>T
|
|
|
|
NR_148400.1:n.1558C>T
|
|
|
|
XM_005272162.3:c.247C>T
|
XP_005272219.1:p.His83Tyr
|
|
|
XM_006716932.2:c.1093C>T
|
XP_006716995.1:p.His365Tyr
|
|
|
XM_011518140.2:c.1297C>T
|
XP_011516442.1:p.His433Tyr
|
|
|
XM_011518141.2:c.1231C>T
|
XP_011516443.1:p.His411Tyr
|
|
|
XM_011518142.2:c.1135C>T
|
XP_011516444.1:p.His379Tyr
|
|
|
XM_011518143.2:c.1129C>T
|
XP_011516445.1:p.His377Tyr
|
|
|
XM_011518145.2:c.988C>T
|
XP_011516447.1:p.His330Tyr
|
|
|
XM_017014205.2:c.247C>T
|
XP_016869694.1:p.His83Tyr
|
|
|
XM_024447380.1:c.247C>T
|
XP_024303148.1:p.His83Tyr
|
|
|
XM_024447381.1:c.553C>T
|
XP_024303149.1:p.His185Tyr
|
|
|
XM_024447382.1:c.247C>T
|
XP_024303150.1:p.His83Tyr
|
|
|
XR_001746160.2:n.1548C>T
|
|
|
|
XR_001746162.2:n.1753C>T
|
|
|
|
XR_001746164.1:n.1470C>T
|
|
|
|
XR_001746166.2:n.1765C>T
|
|
|
|
NM_001077365.2:c.1378C>T
MANE Select
|
NP_001070833.1:p.His460Tyr
|
|
|
NM_001077366.2:c.1216C>T
|
NP_001070834.1:p.His406Tyr
|
|
|
NM_001136113.2:c.1378C>T
|
NP_001129585.1:p.His460Tyr
|
|
|
NM_001136114.2:c.1027C>T
|
NP_001129586.1:p.His343Tyr
|
|
|
NM_001353193.2:c.1444C>T
|
NP_001340122.2:p.His482Tyr
|
|
|
NM_001353194.2:c.1216C>T
|
NP_001340123.1:p.His406Tyr
|
|
|
NM_001353195.2:c.1027C>T
|
NP_001340124.1:p.His343Tyr
|
|
|
NM_001353196.2:c.1288C>T
|
NP_001340125.1:p.His430Tyr
|
|
|
NM_001353197.2:c.1282C>T
|
NP_001340126.2:p.His428Tyr
|
|
|
NM_001353198.2:c.1282C>T
|
NP_001340127.2:p.His428Tyr
|
|
|
NM_001353199.2:c.1093C>T
|
NP_001340128.2:p.His365Tyr
|
|
|
NM_001353200.2:c.922C>T
|
NP_001340129.1:p.His308Tyr
|
|
|
NM_001374689.1:c.1366C>T
|
NP_001361618.1:p.His456Tyr
|
|
|
NM_001374690.1:c.1365+312C>T
|
NP_001361619.1:n.1365+312C>T
|
|
|
NM_001374691.1:c.1027C>T
|
NP_001361620.1:p.His343Tyr
|
|
|
NM_001374692.1:c.1027C>T
|
NP_001361621.1:p.His343Tyr
|
|
|
NM_001374693.1:c.1027C>T
|
NP_001361622.1:p.His343Tyr
|
|
|
NM_001374695.1:c.988C>T
|
NP_001361624.1:p.His330Tyr
|
|
|
NM_007171.4:c.1444C>T
|
NP_009102.4:p.His482Tyr
|
|
|
NR_148391.2:n.1412C>T
|
|
|
|
NR_148392.2:n.1630C>T
|
|
|
|
NR_148393.2:n.1551C>T
|
|
|
|
NR_148394.2:n.1305C>T
|
|
|
|
NR_148395.2:n.1703C>T
|
|
|
|
NR_148396.2:n.1337C>T
|
|
|
|
NR_148397.2:n.1462C>T
|
|
|
|
NR_148398.2:n.1417C>T
|
|
|
|
NR_148399.2:n.1943C>T
|
|
|
|
NR_148400.2:n.1542C>T
|
|
|
