|
ENST00000341012.13:c.1309C>T
|
ENSP00000343034.7:p.His437Tyr
|
|
|
ENST00000404875.7:n.2011C>T
|
|
|
|
ENST00000423007.6:c.1528C>T
|
ENSP00000404119.2:p.His510Tyr
|
|
|
ENST00000677295.2:c.*1815C>T
|
ENSP00000504346.2:n.*1815C>T
|
|
|
ENST00000678264.2:c.*1654C>T
|
ENSP00000503157.2:n.*1654C>T
|
|
|
ENST00000682070.1:n.1936C>T
|
|
|
|
ENST00000682539.1:c.409C>T
|
|
|
|
ENST00000682813.1:n.1875C>T
|
|
|
|
ENST00000683392.1:n.4218C>T
|
|
|
|
ENST00000683712.1:n.1876C>T
|
|
|
|
ENST00000683900.1:n.3371C>T
|
|
|
|
ENST00000684062.1:n.2137C>T
|
|
|
|
ENST00000684579.1:n.3317C>T
|
|
|
|
ENST00000684679.1:n.698C>T
|
|
|
|
ENST00000341012.12:c.1309C>T
|
ENSP00000343034.7:p.His437Tyr
|
|
|
ENST00000372220.5:c.340C>T
|
ENSP00000361294.5:p.His114Tyr
|
|
|
ENST00000372228.9:c.1537C>T
|
ENSP00000361302.3:p.His513Tyr
|
|
|
ENST00000402686.8:c.1471C>T
MANE Select
|
ENSP00000385797.4:p.His491Tyr
|
|
|
ENST00000676640.1:c.1471C>T
|
ENSP00000503281.1:p.His491Tyr
|
|
|
ENST00000676803.1:c.646C>T
|
ENSP00000503093.1:p.His216Tyr
|
|
|
ENST00000676835.1:c.*686C>T
|
ENSP00000502911.1:n.*686C>T
|
|
|
ENST00000677029.1:c.1015C>T
|
ENSP00000502936.1:p.His339Tyr
|
|
|
ENST00000677099.1:c.*1181C>T
|
ENSP00000504553.1:n.*1181C>T
|
|
|
ENST00000677216.1:c.1120C>T
|
ENSP00000503772.1:p.His374Tyr
|
|
|
ENST00000677221.1:n.496C>T
|
|
|
|
ENST00000677295.1:c.*848C>T
|
ENSP00000504346.1:n.*848C>T
|
|
|
ENST00000677444.1:c.1416C>T
|
|
|
|
ENST00000677586.1:n.952C>T
|
|
|
|
ENST00000677626.1:c.1120C>T
|
ENSP00000503552.1:p.His374Tyr
|
|
|
ENST00000677677.1:n.1431C>T
|
|
|
|
ENST00000677853.1:c.*479C>T
|
ENSP00000503488.1:n.*479C>T
|
|
|
ENST00000678202.1:n.630C>T
|
|
|
|
ENST00000678264.1:c.*848C>T
|
ENSP00000503157.1:n.*848C>T
|
|
|
ENST00000678303.1:c.1381C>T
|
ENSP00000503696.1:p.His461Tyr
|
|
|
ENST00000678366.1:c.*1720C>T
|
ENSP00000504353.1:n.*1720C>T
|
|
|
ENST00000678546.1:c.*1416C>T
|
ENSP00000503062.1:n.*1416C>T
|
|
|
ENST00000678548.1:c.*1543C>T
|
ENSP00000503934.1:n.*1543C>T
|
|
|
ENST00000678626.1:n.1307C>T
|
|
|
|
ENST00000678733.1:c.552C>T
|
|
|
|
ENST00000678739.1:c.*1797C>T
|
ENSP00000503806.1:n.*1797C>T
|
|
|
ENST00000678833.1:c.*918C>T
|
ENSP00000503893.1:n.*918C>T
|
|
|
ENST00000679023.1:c.1309C>T
|
ENSP00000503718.1:p.His437Tyr
|
|
|
ENST00000679076.1:c.1090C>T
|
|
|
|
ENST00000679111.1:c.*227C>T
|
ENSP00000504257.1:n.*227C>T
|
|
|
ENST00000679189.1:c.1120C>T
|
ENSP00000503356.1:p.His374Tyr
|
|
|
ENST00000341012.11:c.1309C>T
|
ENSP00000343034.7:p.His437Tyr
|
|
|
ENST00000372220.4:c.334C>T
|
ENSP00000361294.4:p.His112Tyr
|
|
|
ENST00000372228.7:c.1537C>T
|
ENSP00000361302.3:p.His513Tyr
|
|
|
ENST00000402686.7:c.1471C>T
|
ENSP00000385797.3:p.His491Tyr
|
|
|
ENST00000404875.6:c.1120C>T
|
ENSP00000384531.2:p.His374Tyr
|
|
|
ENST00000423007.5:c.1471C>T
|
ENSP00000404119.1:p.His491Tyr
|
|
|
ENST00000467848.1:n.175C>T
|
|
|
|
ENST00000485278.5:n.2026C>T
|
|
|
|
NM_001077365.1:c.1471C>T
|
NP_001070833.1:p.His491Tyr
|
|
|
NM_001077366.1:c.1309C>T
|
NP_001070834.1:p.His437Tyr
|
|
|
NM_001136113.1:c.1471C>T
|
NP_001129585.1:p.His491Tyr
|
|
|
NM_001136114.1:c.1120C>T
|
NP_001129586.1:p.His374Tyr
|
|
|
NM_007171.3:c.1537C>T
|
NP_009102.3:p.His513Tyr
|
|
|
XM_005272156.1:c.1537C>T
|
XP_005272213.1:p.His513Tyr
|
|
|
XM_005272158.1:c.1375C>T
|
XP_005272215.1:p.His459Tyr
|
|
|
XM_005272159.1:c.1186C>T
|
XP_005272216.1:p.His396Tyr
|
|
|
XM_005272162.1:c.340C>T
|
XP_005272219.1:p.His114Tyr
|
|
|
XM_006716932.1:c.1186C>T
|
XP_006716995.1:p.His396Tyr
|
|
|
XM_011518140.1:c.1390C>T
|
XP_011516442.1:p.His464Tyr
|
|
|
XM_011518141.1:c.1324C>T
|
XP_011516443.1:p.His442Tyr
|
|
|
XM_011518142.1:c.1228C>T
|
XP_011516444.1:p.His410Tyr
|
|
|
XM_011518143.1:c.1222C>T
|
XP_011516445.1:p.His408Tyr
|
|
|
XM_011518145.1:c.1081C>T
|
XP_011516447.1:p.His361Tyr
|
|
|
XM_011518147.1:c.409C>T
|
XP_011516449.1:p.His137Tyr
|
|
|
XR_929703.1:n.1713C>T
|
|
|
|
NM_001353193.1:c.1537C>T
|
NP_001340122.1:p.His513Tyr
|
|
|
NM_001353194.1:c.1309C>T
|
NP_001340123.1:p.His437Tyr
|
|
|
NM_001353195.1:c.1120C>T
|
NP_001340124.1:p.His374Tyr
|
|
|
NM_001353196.1:c.1381C>T
|
NP_001340125.1:p.His461Tyr
|
|
|
NM_001353197.1:c.1375C>T
|
NP_001340126.1:p.His459Tyr
|
|
|
NM_001353198.1:c.1375C>T
|
NP_001340127.1:p.His459Tyr
|
|
|
NM_001353199.1:c.1186C>T
|
NP_001340128.1:p.His396Tyr
|
|
|
NM_001353200.1:c.1015C>T
|
NP_001340129.1:p.His339Tyr
|
|
|
NR_148391.1:n.1521C>T
|
|
|
|
NR_148392.1:n.1739C>T
|
|
|
|
NR_148393.1:n.1660C>T
|
|
|
|
NR_148394.1:n.1414C>T
|
|
|
|
NR_148395.1:n.1812C>T
|
|
|
|
NR_148396.1:n.1446C>T
|
|
|
|
NR_148397.1:n.1571C>T
|
|
|
|
NR_148398.1:n.1526C>T
|
|
|
|
NR_148399.1:n.2052C>T
|
|
|
|
NR_148400.1:n.1651C>T
|
|
|
|
XM_005272162.3:c.340C>T
|
XP_005272219.1:p.His114Tyr
|
|
|
XM_006716932.2:c.1186C>T
|
XP_006716995.1:p.His396Tyr
|
|
|
XM_011518140.2:c.1390C>T
|
XP_011516442.1:p.His464Tyr
|
|
|
XM_011518141.2:c.1324C>T
|
XP_011516443.1:p.His442Tyr
|
|
|
XM_011518142.2:c.1228C>T
|
XP_011516444.1:p.His410Tyr
|
|
|
XM_011518143.2:c.1222C>T
|
XP_011516445.1:p.His408Tyr
|
|
|
XM_011518145.2:c.1081C>T
|
XP_011516447.1:p.His361Tyr
|
|
|
XM_017014205.2:c.340C>T
|
XP_016869694.1:p.His114Tyr
|
|
|
XM_024447380.1:c.340C>T
|
XP_024303148.1:p.His114Tyr
|
|
|
XM_024447381.1:c.646C>T
|
XP_024303149.1:p.His216Tyr
|
|
|
XM_024447382.1:c.340C>T
|
XP_024303150.1:p.His114Tyr
|
|
|
XR_001746160.2:n.1641C>T
|
|
|
|
XR_001746162.2:n.1846C>T
|
|
|
|
XR_001746164.1:n.1563C>T
|
|
|
|
XR_001746166.2:n.1858C>T
|
|
|
|
NM_001077365.2:c.1471C>T
MANE Select
|
NP_001070833.1:p.His491Tyr
|
|
|
NM_001077366.2:c.1309C>T
|
NP_001070834.1:p.His437Tyr
|
|
|
NM_001136113.2:c.1471C>T
|
NP_001129585.1:p.His491Tyr
|
|
|
NM_001136114.2:c.1120C>T
|
NP_001129586.1:p.His374Tyr
|
|
|
NM_001353193.2:c.1537C>T
|
NP_001340122.2:p.His513Tyr
|
|
|
NM_001353194.2:c.1309C>T
|
NP_001340123.1:p.His437Tyr
|
|
|
NM_001353195.2:c.1120C>T
|
NP_001340124.1:p.His374Tyr
|
|
|
NM_001353196.2:c.1381C>T
|
NP_001340125.1:p.His461Tyr
|
|
|
NM_001353197.2:c.1375C>T
|
NP_001340126.2:p.His459Tyr
|
|
|
NM_001353198.2:c.1375C>T
|
NP_001340127.2:p.His459Tyr
|
|
|
NM_001353199.2:c.1186C>T
|
NP_001340128.2:p.His396Tyr
|
|
|
NM_001353200.2:c.1015C>T
|
NP_001340129.1:p.His339Tyr
|
|
|
NM_001374689.1:c.1459C>T
|
NP_001361618.1:p.His487Tyr
|
|
|
NM_001374690.1:c.1365+405C>T
|
NP_001361619.1:n.1365+405C>T
|
|
|
NM_001374691.1:c.1120C>T
|
NP_001361620.1:p.His374Tyr
|
|
|
NM_001374692.1:c.1120C>T
|
NP_001361621.1:p.His374Tyr
|
|
|
NM_001374693.1:c.1120C>T
|
NP_001361622.1:p.His374Tyr
|
|
|
NM_001374695.1:c.1081C>T
|
NP_001361624.1:p.His361Tyr
|
|
|
NM_007171.4:c.1537C>T
|
NP_009102.4:p.His513Tyr
|
|
|
NR_148391.2:n.1505C>T
|
|
|
|
NR_148392.2:n.1723C>T
|
|
|
|
NR_148393.2:n.1644C>T
|
|
|
|
NR_148394.2:n.1398C>T
|
|
|
|
NR_148395.2:n.1796C>T
|
|
|
|
NR_148396.2:n.1430C>T
|
|
|
|
NR_148397.2:n.1555C>T
|
|
|
|
NR_148398.2:n.1510C>T
|
|
|
|
NR_148399.2:n.2036C>T
|
|
|
|
NR_148400.2:n.1635C>T
|
|
|
