|
ENST00000341012.13:c.1588G>T
|
ENSP00000343034.7:p.Ala530Ser
|
|
|
ENST00000404875.7:n.2290G>T
|
|
|
|
ENST00000423007.6:c.1807G>T
|
ENSP00000404119.2:p.Ala603Ser
|
|
|
ENST00000677295.2:c.*2094G>T
|
ENSP00000504346.2:n.*2094G>T
|
|
|
ENST00000678264.2:c.*1933G>T
|
ENSP00000503157.2:n.*1933G>T
|
|
|
ENST00000682070.1:n.2215G>T
|
|
|
|
ENST00000682813.1:n.2154G>T
|
|
|
|
ENST00000683392.1:n.4497G>T
|
|
|
|
ENST00000683712.1:n.2155G>T
|
|
|
|
ENST00000683900.1:n.3650G>T
|
|
|
|
ENST00000684062.1:n.2416G>T
|
|
|
|
ENST00000684579.1:n.3596G>T
|
|
|
|
ENST00000684679.1:n.977G>T
|
|
|
|
ENST00000341012.12:c.1588G>T
|
ENSP00000343034.7:p.Ala530Ser
|
|
|
ENST00000372220.5:c.619G>T
|
ENSP00000361294.5:p.Ala207Ser
|
|
|
ENST00000372228.9:c.1816G>T
|
ENSP00000361302.3:p.Ala606Ser
|
|
|
ENST00000402686.8:c.1750G>T
MANE Select
|
ENSP00000385797.4:p.Ala584Ser
|
|
|
ENST00000676640.1:c.1750G>T
|
ENSP00000503281.1:p.Ala584Ser
|
|
|
ENST00000676803.1:c.811G>T
|
ENSP00000503093.1:p.Ala271Ser
|
|
|
ENST00000676835.1:c.*965G>T
|
ENSP00000502911.1:n.*965G>T
|
|
|
ENST00000677029.1:c.1294G>T
|
ENSP00000502936.1:p.Ala432Ser
|
|
|
ENST00000677099.1:c.*1460G>T
|
ENSP00000504553.1:n.*1460G>T
|
|
|
ENST00000677216.1:c.1399G>T
|
ENSP00000503772.1:p.Ala467Ser
|
|
|
ENST00000677221.1:n.775G>T
|
|
|
|
ENST00000677295.1:c.*1127G>T
|
ENSP00000504346.1:n.*1127G>T
|
|
|
ENST00000677444.1:c.1695G>T
|
|
|
|
ENST00000677586.1:n.1117G>T
|
|
|
|
ENST00000677626.1:c.1399G>T
|
ENSP00000503552.1:p.Ala467Ser
|
|
|
ENST00000677853.1:c.*758G>T
|
ENSP00000503488.1:n.*758G>T
|
|
|
ENST00000678202.1:n.909G>T
|
|
|
|
ENST00000678264.1:c.*1127G>T
|
ENSP00000503157.1:n.*1127G>T
|
|
|
ENST00000678303.1:c.1660G>T
|
ENSP00000503696.1:p.Ala554Ser
|
|
|
ENST00000678366.1:c.*1999G>T
|
ENSP00000504353.1:n.*1999G>T
|
|
|
ENST00000678546.1:c.*1695G>T
|
ENSP00000503062.1:n.*1695G>T
|
|
|
ENST00000678548.1:c.*1822G>T
|
ENSP00000503934.1:n.*1822G>T
|
|
|
ENST00000678626.1:n.1586G>T
|
|
|
|
ENST00000678739.1:c.*2071G>T
|
ENSP00000503806.1:n.*2071G>T
|
|
|
ENST00000678833.1:c.*1502G>T
|
ENSP00000503893.1:n.*1502G>T
|
|
|
ENST00000679023.1:c.1588G>T
|
ENSP00000503718.1:p.Ala530Ser
|
|
|
ENST00000679076.1:c.1369G>T
|
|
|
|
ENST00000679111.1:c.*506G>T
|
ENSP00000504257.1:n.*506G>T
|
|
|
ENST00000679189.1:c.1399G>T
|
ENSP00000503356.1:p.Ala467Ser
|
|
|
ENST00000341012.11:c.1588G>T
|
ENSP00000343034.7:p.Ala530Ser
|
|
|
ENST00000372220.4:c.613G>T
|
ENSP00000361294.4:p.Ala205Ser
|
|
|
ENST00000372228.7:c.1816G>T
|
ENSP00000361302.3:p.Ala606Ser
|
|
|
ENST00000402686.7:c.1750G>T
|
ENSP00000385797.3:p.Ala584Ser
|
|
|
ENST00000404875.6:c.1399G>T
|
ENSP00000384531.2:p.Ala467Ser
|
|
|
ENST00000423007.5:c.1750G>T
|
ENSP00000404119.1:p.Ala584Ser
|
|
|
ENST00000467848.1:n.454G>T
|
|
|
|
ENST00000485278.5:n.2300G>T
|
|
|
|
ENST00000494883.1:n.293G>T
|
|
|
|
NM_001077365.1:c.1750G>T
|
NP_001070833.1:p.Ala584Ser
|
|
|
NM_001077366.1:c.1588G>T
|
NP_001070834.1:p.Ala530Ser
|
|
|
NM_001136113.1:c.1750G>T
|
NP_001129585.1:p.Ala584Ser
|
|
|
NM_001136114.1:c.1399G>T
|
NP_001129586.1:p.Ala467Ser
|
|
|
NM_007171.3:c.1816G>T
|
NP_009102.3:p.Ala606Ser
|
|
|
XM_005272156.1:c.1816G>T
|
XP_005272213.1:p.Ala606Ser
|
|
|
XM_005272158.1:c.1654G>T
|
XP_005272215.1:p.Ala552Ser
|
|
|
XM_005272159.1:c.1465G>T
|
XP_005272216.1:p.Ala489Ser
|
|
|
XM_005272162.1:c.619G>T
|
XP_005272219.1:p.Ala207Ser
|
|
|
XM_006716932.1:c.1465G>T
|
XP_006716995.1:p.Ala489Ser
|
|
|
XM_011518140.1:c.1669G>T
|
XP_011516442.1:p.Ala557Ser
|
|
|
XM_011518141.1:c.1603G>T
|
XP_011516443.1:p.Ala535Ser
|
|
|
XM_011518142.1:c.1507G>T
|
XP_011516444.1:p.Ala503Ser
|
|
|
XM_011518143.1:c.1501G>T
|
XP_011516445.1:p.Ala501Ser
|
|
|
XM_011518145.1:c.1360G>T
|
XP_011516447.1:p.Ala454Ser
|
|
|
XM_011518147.1:c.688G>T
|
XP_011516449.1:p.Ala230Ser
|
|
|
XR_929703.1:n.1992G>T
|
|
|
|
NM_001353193.1:c.1816G>T
|
NP_001340122.1:p.Ala606Ser
|
|
|
NM_001353194.1:c.1588G>T
|
NP_001340123.1:p.Ala530Ser
|
|
|
NM_001353195.1:c.1399G>T
|
NP_001340124.1:p.Ala467Ser
|
|
|
NM_001353196.1:c.1660G>T
|
NP_001340125.1:p.Ala554Ser
|
|
|
NM_001353197.1:c.1654G>T
|
NP_001340126.1:p.Ala552Ser
|
|
|
NM_001353198.1:c.1654G>T
|
NP_001340127.1:p.Ala552Ser
|
|
|
NM_001353199.1:c.1465G>T
|
NP_001340128.1:p.Ala489Ser
|
|
|
NM_001353200.1:c.1294G>T
|
NP_001340129.1:p.Ala432Ser
|
|
|
NR_148391.1:n.1800G>T
|
|
|
|
NR_148392.1:n.2018G>T
|
|
|
|
NR_148393.1:n.1939G>T
|
|
|
|
NR_148394.1:n.1693G>T
|
|
|
|
NR_148395.1:n.2091G>T
|
|
|
|
NR_148396.1:n.1725G>T
|
|
|
|
NR_148397.1:n.1850G>T
|
|
|
|
NR_148398.1:n.1805G>T
|
|
|
|
NR_148399.1:n.2331G>T
|
|
|
|
NR_148400.1:n.1930G>T
|
|
|
|
XM_005272162.3:c.619G>T
|
XP_005272219.1:p.Ala207Ser
|
|
|
XM_006716932.2:c.1465G>T
|
XP_006716995.1:p.Ala489Ser
|
|
|
XM_011518140.2:c.1669G>T
|
XP_011516442.1:p.Ala557Ser
|
|
|
XM_011518141.2:c.1603G>T
|
XP_011516443.1:p.Ala535Ser
|
|
|
XM_011518142.2:c.1507G>T
|
XP_011516444.1:p.Ala503Ser
|
|
|
XM_011518143.2:c.1501G>T
|
XP_011516445.1:p.Ala501Ser
|
|
|
XM_011518145.2:c.1360G>T
|
XP_011516447.1:p.Ala454Ser
|
|
|
XM_017014205.2:c.619G>T
|
XP_016869694.1:p.Ala207Ser
|
|
|
XM_024447380.1:c.619G>T
|
XP_024303148.1:p.Ala207Ser
|
|
|
XM_024447381.1:c.925G>T
|
XP_024303149.1:p.Ala309Ser
|
|
|
XM_024447382.1:c.619G>T
|
XP_024303150.1:p.Ala207Ser
|
|
|
XR_001746160.2:n.1920G>T
|
|
|
|
XR_001746162.2:n.2125G>T
|
|
|
|
XR_001746164.1:n.1842G>T
|
|
|
|
XR_001746166.2:n.2137G>T
|
|
|
|
NM_001077365.2:c.1750G>T
MANE Select
|
NP_001070833.1:p.Ala584Ser
|
|
|
NM_001077366.2:c.1588G>T
|
NP_001070834.1:p.Ala530Ser
|
|
|
NM_001136113.2:c.1750G>T
|
NP_001129585.1:p.Ala584Ser
|
|
|
NM_001136114.2:c.1399G>T
|
NP_001129586.1:p.Ala467Ser
|
|
|
NM_001353193.2:c.1816G>T
|
NP_001340122.2:p.Ala606Ser
|
|
|
NM_001353194.2:c.1588G>T
|
NP_001340123.1:p.Ala530Ser
|
|
|
NM_001353195.2:c.1399G>T
|
NP_001340124.1:p.Ala467Ser
|
|
|
NM_001353196.2:c.1660G>T
|
NP_001340125.1:p.Ala554Ser
|
|
|
NM_001353197.2:c.1654G>T
|
NP_001340126.2:p.Ala552Ser
|
|
|
NM_001353198.2:c.1654G>T
|
NP_001340127.2:p.Ala552Ser
|
|
|
NM_001353199.2:c.1465G>T
|
NP_001340128.2:p.Ala489Ser
|
|
|
NM_001353200.2:c.1294G>T
|
NP_001340129.1:p.Ala432Ser
|
|
|
NM_001374689.1:c.1738G>T
|
NP_001361618.1:p.Ala580Ser
|
|
|
NM_001374690.1:c.1531G>T
|
NP_001361619.1:p.Ala511Ser
|
|
|
NM_001374691.1:c.1399G>T
|
NP_001361620.1:p.Ala467Ser
|
|
|
NM_001374692.1:c.1399G>T
|
NP_001361621.1:p.Ala467Ser
|
|
|
NM_001374693.1:c.1399G>T
|
NP_001361622.1:p.Ala467Ser
|
|
|
NM_001374695.1:c.1360G>T
|
NP_001361624.1:p.Ala454Ser
|
|
|
NM_007171.4:c.1816G>T
|
NP_009102.4:p.Ala606Ser
|
|
|
NR_148391.2:n.1784G>T
|
|
|
|
NR_148392.2:n.2002G>T
|
|
|
|
NR_148393.2:n.1923G>T
|
|
|
|
NR_148394.2:n.1677G>T
|
|
|
|
NR_148395.2:n.2075G>T
|
|
|
|
NR_148396.2:n.1709G>T
|
|
|
|
NR_148397.2:n.1834G>T
|
|
|
|
NR_148398.2:n.1789G>T
|
|
|
|
NR_148399.2:n.2315G>T
|
|
|
|
NR_148400.2:n.1914G>T
|
|
|
