|
ENST00000341012.13:c.1694C>G
|
ENSP00000343034.7:p.Ala565Gly
|
|
|
ENST00000404875.7:n.2396C>G
|
|
|
|
ENST00000423007.6:c.1913C>G
|
ENSP00000404119.2:p.Ala638Gly
|
|
|
ENST00000677295.2:c.*2200C>G
|
ENSP00000504346.2:n.*2200C>G
|
|
|
ENST00000678264.2:c.*2039C>G
|
ENSP00000503157.2:n.*2039C>G
|
|
|
ENST00000682070.1:n.2291-125C>G
|
|
|
|
ENST00000682813.1:n.2260C>G
|
|
|
|
ENST00000683392.1:n.4573-125C>G
|
|
|
|
ENST00000683712.1:n.2261C>G
|
|
|
|
ENST00000683900.1:n.3756C>G
|
|
|
|
ENST00000684062.1:n.2522C>G
|
|
|
|
ENST00000684579.1:n.3702C>G
|
|
|
|
ENST00000684679.1:n.1083C>G
|
|
|
|
ENST00000341012.12:c.1694C>G
|
ENSP00000343034.7:p.Ala565Gly
|
|
|
ENST00000372220.5:c.725C>G
|
ENSP00000361294.5:p.Ala242Gly
|
|
|
ENST00000372228.9:c.1922C>G
|
ENSP00000361302.3:p.Ala641Gly
|
|
|
ENST00000402686.8:c.1856C>G
MANE Select
|
ENSP00000385797.4:p.Ala619Gly
|
|
|
ENST00000676640.1:c.1856C>G
|
ENSP00000503281.1:p.Ala619Gly
|
|
|
ENST00000676803.1:c.917C>G
|
ENSP00000503093.1:p.Ala306Gly
|
|
|
ENST00000676835.1:c.*1071C>G
|
ENSP00000502911.1:n.*1071C>G
|
|
|
ENST00000677029.1:c.1400C>G
|
ENSP00000502936.1:p.Ala467Gly
|
|
|
ENST00000677099.1:c.*1566C>G
|
ENSP00000504553.1:n.*1566C>G
|
|
|
ENST00000677216.1:c.1505C>G
|
ENSP00000503772.1:p.Ala502Gly
|
|
|
ENST00000677221.1:n.881C>G
|
|
|
|
ENST00000677295.1:c.*1203-125C>G
|
ENSP00000504346.1:n.*1203-125C>G
|
|
|
ENST00000677444.1:c.1801C>G
|
|
|
|
ENST00000677586.1:n.1223C>G
|
|
|
|
ENST00000677626.1:c.1505C>G
|
ENSP00000503552.1:p.Ala502Gly
|
|
|
ENST00000677853.1:c.*864C>G
|
ENSP00000503488.1:n.*864C>G
|
|
|
ENST00000678202.1:n.1015C>G
|
|
|
|
ENST00000678264.1:c.*1233C>G
|
ENSP00000503157.1:n.*1233C>G
|
|
|
ENST00000678303.1:c.1766C>G
|
ENSP00000503696.1:p.Ala589Gly
|
|
|
ENST00000678366.1:c.*2105C>G
|
ENSP00000504353.1:n.*2105C>G
|
|
|
ENST00000678546.1:c.*1801C>G
|
ENSP00000503062.1:n.*1801C>G
|
|
|
ENST00000678548.1:c.*1995C>G
|
ENSP00000503934.1:n.*1995C>G
|
|
|
ENST00000678626.1:n.1692C>G
|
|
|
|
ENST00000678739.1:c.*2147-125C>G
|
ENSP00000503806.1:n.*2147-125C>G
|
|
|
ENST00000678833.1:c.*1608C>G
|
ENSP00000503893.1:n.*1608C>G
|
|
|
ENST00000679023.1:c.1694C>G
|
ENSP00000503718.1:p.Ala565Gly
|
|
|
ENST00000679076.1:c.1475C>G
|
|
|
|
ENST00000679111.1:c.*612C>G
|
ENSP00000504257.1:n.*612C>G
|
|
|
ENST00000679189.1:c.1505C>G
|
ENSP00000503356.1:p.Ala502Gly
|
|
|
ENST00000341012.11:c.1694C>G
|
ENSP00000343034.7:p.Ala565Gly
|
|
|
ENST00000372220.4:c.719C>G
|
ENSP00000361294.4:p.Ala240Gly
|
|
|
ENST00000372228.7:c.1922C>G
|
ENSP00000361302.3:p.Ala641Gly
|
|
|
ENST00000402686.7:c.1856C>G
|
ENSP00000385797.3:p.Ala619Gly
|
|
|
ENST00000404875.6:c.1505C>G
|
ENSP00000384531.2:p.Ala502Gly
|
|
|
ENST00000423007.5:c.1856C>G
|
ENSP00000404119.1:p.Ala619Gly
|
|
|
ENST00000485278.5:n.2406C>G
|
|
|
|
ENST00000494883.1:n.399C>G
|
|
|
|
NM_001077365.1:c.1856C>G
|
NP_001070833.1:p.Ala619Gly
|
|
|
NM_001077366.1:c.1694C>G
|
NP_001070834.1:p.Ala565Gly
|
|
|
NM_001136113.1:c.1856C>G
|
NP_001129585.1:p.Ala619Gly
|
|
|
NM_001136114.1:c.1505C>G
|
NP_001129586.1:p.Ala502Gly
|
|
|
NM_007171.3:c.1922C>G
|
NP_009102.3:p.Ala641Gly
|
|
|
XM_005272156.1:c.1922C>G
|
XP_005272213.1:p.Ala641Gly
|
|
|
XM_005272158.1:c.1760C>G
|
XP_005272215.1:p.Ala587Gly
|
|
|
XM_005272159.1:c.1571C>G
|
XP_005272216.1:p.Ala524Gly
|
|
|
XM_005272162.1:c.725C>G
|
XP_005272219.1:p.Ala242Gly
|
|
|
XM_006716932.1:c.1571C>G
|
XP_006716995.1:p.Ala524Gly
|
|
|
XM_011518140.1:c.1775C>G
|
XP_011516442.1:p.Ala592Gly
|
|
|
XM_011518141.1:c.1709C>G
|
XP_011516443.1:p.Ala570Gly
|
|
|
XM_011518142.1:c.1613C>G
|
XP_011516444.1:p.Ala538Gly
|
|
|
XM_011518143.1:c.1607C>G
|
XP_011516445.1:p.Ala536Gly
|
|
|
XM_011518145.1:c.1466C>G
|
XP_011516447.1:p.Ala489Gly
|
|
|
XM_011518147.1:c.794C>G
|
XP_011516449.1:p.Ala265Gly
|
|
|
XR_929703.1:n.2098C>G
|
|
|
|
NM_001353193.1:c.1922C>G
|
NP_001340122.1:p.Ala641Gly
|
|
|
NM_001353194.1:c.1694C>G
|
NP_001340123.1:p.Ala565Gly
|
|
|
NM_001353195.1:c.1505C>G
|
NP_001340124.1:p.Ala502Gly
|
|
|
NM_001353196.1:c.1766C>G
|
NP_001340125.1:p.Ala589Gly
|
|
|
NM_001353197.1:c.1760C>G
|
NP_001340126.1:p.Ala587Gly
|
|
|
NM_001353198.1:c.1760C>G
|
NP_001340127.1:p.Ala587Gly
|
|
|
NM_001353199.1:c.1571C>G
|
NP_001340128.1:p.Ala524Gly
|
|
|
NM_001353200.1:c.1400C>G
|
NP_001340129.1:p.Ala467Gly
|
|
|
NR_148391.1:n.1906C>G
|
|
|
|
NR_148392.1:n.2124C>G
|
|
|
|
NR_148393.1:n.2045C>G
|
|
|
|
NR_148394.1:n.1799C>G
|
|
|
|
NR_148395.1:n.2197C>G
|
|
|
|
NR_148396.1:n.1831C>G
|
|
|
|
NR_148397.1:n.1956C>G
|
|
|
|
NR_148398.1:n.1911C>G
|
|
|
|
NR_148399.1:n.2437C>G
|
|
|
|
NR_148400.1:n.2036C>G
|
|
|
|
XM_005272162.3:c.725C>G
|
XP_005272219.1:p.Ala242Gly
|
|
|
XM_006716932.2:c.1571C>G
|
XP_006716995.1:p.Ala524Gly
|
|
|
XM_011518140.2:c.1775C>G
|
XP_011516442.1:p.Ala592Gly
|
|
|
XM_011518141.2:c.1709C>G
|
XP_011516443.1:p.Ala570Gly
|
|
|
XM_011518142.2:c.1613C>G
|
XP_011516444.1:p.Ala538Gly
|
|
|
XM_011518143.2:c.1607C>G
|
XP_011516445.1:p.Ala536Gly
|
|
|
XM_011518145.2:c.1466C>G
|
XP_011516447.1:p.Ala489Gly
|
|
|
XM_017014205.2:c.725C>G
|
XP_016869694.1:p.Ala242Gly
|
|
|
XM_024447380.1:c.725C>G
|
XP_024303148.1:p.Ala242Gly
|
|
|
XM_024447381.1:c.1031C>G
|
XP_024303149.1:p.Ala344Gly
|
|
|
XM_024447382.1:c.725C>G
|
XP_024303150.1:p.Ala242Gly
|
|
|
XR_001746160.2:n.2026C>G
|
|
|
|
XR_001746162.2:n.2231C>G
|
|
|
|
XR_001746164.1:n.1948C>G
|
|
|
|
XR_001746166.2:n.2243C>G
|
|
|
|
NM_001077365.2:c.1856C>G
MANE Select
|
NP_001070833.1:p.Ala619Gly
|
|
|
NM_001077366.2:c.1694C>G
|
NP_001070834.1:p.Ala565Gly
|
|
|
NM_001136113.2:c.1856C>G
|
NP_001129585.1:p.Ala619Gly
|
|
|
NM_001136114.2:c.1505C>G
|
NP_001129586.1:p.Ala502Gly
|
|
|
NM_001353193.2:c.1922C>G
|
NP_001340122.2:p.Ala641Gly
|
|
|
NM_001353194.2:c.1694C>G
|
NP_001340123.1:p.Ala565Gly
|
|
|
NM_001353195.2:c.1505C>G
|
NP_001340124.1:p.Ala502Gly
|
|
|
NM_001353196.2:c.1766C>G
|
NP_001340125.1:p.Ala589Gly
|
|
|
NM_001353197.2:c.1760C>G
|
NP_001340126.2:p.Ala587Gly
|
|
|
NM_001353198.2:c.1760C>G
|
NP_001340127.2:p.Ala587Gly
|
|
|
NM_001353199.2:c.1571C>G
|
NP_001340128.2:p.Ala524Gly
|
|
|
NM_001353200.2:c.1400C>G
|
NP_001340129.1:p.Ala467Gly
|
|
|
NM_001374689.1:c.1844C>G
|
NP_001361618.1:p.Ala615Gly
|
|
|
NM_001374690.1:c.1637C>G
|
NP_001361619.1:p.Ala546Gly
|
|
|
NM_001374691.1:c.1505C>G
|
NP_001361620.1:p.Ala502Gly
|
|
|
NM_001374692.1:c.1505C>G
|
NP_001361621.1:p.Ala502Gly
|
|
|
NM_001374693.1:c.1505C>G
|
NP_001361622.1:p.Ala502Gly
|
|
|
NM_001374695.1:c.1466C>G
|
NP_001361624.1:p.Ala489Gly
|
|
|
NM_007171.4:c.1922C>G
|
NP_009102.4:p.Ala641Gly
|
|
|
NR_148391.2:n.1890C>G
|
|
|
|
NR_148392.2:n.2108C>G
|
|
|
|
NR_148393.2:n.2029C>G
|
|
|
|
NR_148394.2:n.1783C>G
|
|
|
|
NR_148395.2:n.2181C>G
|
|
|
|
NR_148396.2:n.1815C>G
|
|
|
|
NR_148397.2:n.1940C>G
|
|
|
|
NR_148398.2:n.1895C>G
|
|
|
|
NR_148399.2:n.2421C>G
|
|
|
|
NR_148400.2:n.2020C>G
|
|
|
