|
NM_001382391.1:c.1549C>T
MANE Select
|
NP_001369320.1:p.Arg517Ter
|
|
ENST00000678616.1:c.1549C>T
MANE Select
|
ENSP00000504733.1:p.Arg517Ter
|
|
NM_001291339.1:c.652C>T
|
NP_001278268.1:p.Arg218Ter
|
|
NM_001291339.2:c.652C>T
|
NP_001278268.1:p.Arg218Ter
|
|
NM_001363131.1:c.1468C>T
|
NP_001350060.1:p.Arg490Ter
|
|
NM_001363131.2:c.1468C>T
|
NP_001350060.1:p.Arg490Ter
|
|
NM_001363132.1:c.1507C>T
|
NP_001350061.1:p.Arg503Ter
|
|
NM_001363132.2:c.1507C>T
|
NP_001350061.1:p.Arg503Ter
|
|
NM_001363133.1:c.1426C>T
|
NP_001350062.1:p.Arg476Ter
|
|
NM_001363133.2:c.1426C>T
|
NP_001350062.1:p.Arg476Ter
|
|
NM_001364869.1:c.1615C>T
|
NP_001351798.1:p.Arg539Ter
|
|
NM_001364870.1:c.1435C>T
|
NP_001351799.1:p.Arg479Ter
|
|
NM_024790.6:c.1534C>T
|
NP_079066.5:p.Arg512Ter
|
|
ENST00000262210.11:c.1615C>T
|
ENSP00000262210.6:p.Arg539Ter
|
|
ENST00000262210.9:c.1534C>T
|
ENSP00000262210.5:p.Arg512Ter
|
|
ENST00000519163.6:c.*1728C>T
|
ENSP00000428694.1:n.*1728C>T
|
|
ENST00000519668.1:c.652C>T
|
ENSP00000430092.1:p.Arg218Ter
|
|
ENST00000674993.1:c.1639C>T
|
ENSP00000502454.1:p.Arg547Ter
|
|
ENST00000675306.2:c.1426C>T
|
ENSP00000502421.1:p.Arg476Ter
|
|
ENST00000675820.1:c.*1340C>T
|
ENSP00000501959.1:n.*1340C>T
|
|
ENST00000675869.1:c.1507C>T
|
ENSP00000502747.1:p.Arg503Ter
|
|
ENST00000675955.1:c.1468C>T
|
ENSP00000501676.1:p.Arg490Ter
|
|
ENST00000676113.1:c.1507C>T
|
ENSP00000501645.1:p.Arg503Ter
|
|
ENST00000676317.1:c.1534C>T
|
ENSP00000502047.1:p.Arg512Ter
|
|
ENST00000676471.1:c.1435C>T
|
ENSP00000503711.1:p.Arg479Ter
|
|
ENST00000676534.1:n.4475C>T
|
|
|
ENST00000676567.1:c.*326C>T
|
ENSP00000503427.1:n.*326C>T
|
|
ENST00000676573.1:c.1003C>T
|
ENSP00000504532.1:p.Arg335Ter
|
|
ENST00000676605.1:c.1657C>T
|
ENSP00000503605.1:p.Arg553Ter
|
|
ENST00000676695.1:c.1123C>T
|
ENSP00000503292.1:p.Arg375Ter
|
|
ENST00000676697.1:n.2310C>T
|
|
|
ENST00000676847.1:c.1528C>T
|
ENSP00000503336.1:p.Arg510Ter
|
|
ENST00000676858.1:c.1420C>T
|
ENSP00000502925.1:p.Arg474Ter
|
|
ENST00000676882.1:c.1435C>T
|
ENSP00000504342.1:p.Arg479Ter
|
|
ENST00000677009.1:c.1534C>T
|
ENSP00000503297.1:p.Arg512Ter
|
|
ENST00000677052.1:n.1047C>T
|
|
|
ENST00000677070.1:c.1216C>T
|
ENSP00000503014.1:p.Arg406Ter
|
|
ENST00000677256.1:c.*1268C>T
|
ENSP00000504102.1:n.*1268C>T
|
|
ENST00000677430.1:c.1468C>T
|
ENSP00000504177.1:p.Arg490Ter
|
|
ENST00000677455.1:n.1575C>T
|
|
|
ENST00000677473.1:c.1477C>T
|
ENSP00000503534.1:p.Arg493Ter
|
|
ENST00000677592.1:c.1516C>T
|
ENSP00000504516.1:p.Arg506Ter
|
|
ENST00000677619.1:c.895C>T
|
ENSP00000504522.1:p.Arg299Ter
|
|
ENST00000677836.1:c.1123C>T
|
ENSP00000504345.1:p.Arg375Ter
|
|
ENST00000677845.1:c.895C>T
|
ENSP00000503524.1:p.Arg299Ter
|
|
ENST00000677855.1:c.1123C>T
|
ENSP00000504757.1:p.Arg375Ter
|
|
ENST00000678017.1:c.553C>T
|
ENSP00000504394.1:p.Arg185Ter
|
|
ENST00000678138.1:n.1793C>T
|
|
|
ENST00000678156.1:n.1189C>T
|
|
|
ENST00000678216.1:n.1141C>T
|
|
|
ENST00000678318.1:c.1084C>T
|
ENSP00000503690.1:p.Arg362Ter
|
|
ENST00000678345.1:c.262C>T
|
ENSP00000503668.1:p.Arg88Ter
|
|
ENST00000678362.1:c.*326C>T
|
ENSP00000504317.1:n.*326C>T
|
|
ENST00000678444.1:c.1233C>T
|
ENSP00000503879.1:n.1233C>T
|
|
ENST00000678542.1:c.1657C>T
|
ENSP00000503878.1:p.Arg553Ter
|
|
ENST00000678553.1:c.1477C>T
|
ENSP00000503747.1:p.Arg493Ter
|
|
ENST00000678645.1:c.1426C>T
|
ENSP00000504031.1:p.Arg476Ter
|
|
ENST00000678728.1:c.*326C>T
|
ENSP00000504830.1:n.*326C>T
|
|
ENST00000678747.1:c.976C>T
|
ENSP00000503390.1:p.Arg326Ter
|
|
ENST00000678807.1:n.732C>T
|
|
|
ENST00000678821.1:n.2820C>T
|
|
|
ENST00000679042.1:n.2358C>T
|
|
|
ENST00000679112.1:c.*1448C>T
|
ENSP00000503739.1:n.*1448C>T
|
|
ENST00000679226.1:c.1426C>T
|
ENSP00000503601.1:p.Arg476Ter
|
|
ENST00000679274.1:n.473C>T
|
|
|
XM_005251305.3:c.1777C>T
|
XP_005251362.2:p.Arg593Ter
|
|
XM_005251305.4:c.1777C>T
|
XP_005251362.2:p.Arg593Ter
|
|
XM_006716474.2:c.1777C>T
|
XP_006716537.2:p.Arg593Ter
|
|
XM_006716474.3:c.1777C>T
|
XP_006716537.2:p.Arg593Ter
|
|
XM_006716477.2:c.1246C>T
|
XP_006716540.2:p.Arg416Ter
|
|
XM_006716477.3:c.1246C>T
|
XP_006716540.2:p.Arg416Ter
|
|
XM_011517598.1:c.1819C>T
|
XP_011515900.1:p.Arg607Ter
|
|
XM_011517598.2:c.1819C>T
|
XP_011515900.1:p.Arg607Ter
|
|
XM_011517599.1:c.1795C>T
|
XP_011515901.1:p.Arg599Ter
|
|
XM_011517599.2:c.1795C>T
|
XP_011515901.1:p.Arg599Ter
|
|
XM_011517600.1:c.1753C>T
|
XP_011515902.1:p.Arg585Ter
|
|
XM_011517600.2:c.1753C>T
|
XP_011515902.1:p.Arg585Ter
|
|
XM_011517601.1:c.1714C>T
|
XP_011515903.1:p.Arg572Ter
|
|
XM_011517601.2:c.1714C>T
|
XP_011515903.1:p.Arg572Ter
|
|
XM_011517602.1:c.1672C>T
|
XP_011515904.1:p.Arg558Ter
|
|
XM_011517602.2:c.1672C>T
|
XP_011515904.1:p.Arg558Ter
|
|
XM_011517603.1:c.1573C>T
|
XP_011515905.1:p.Arg525Ter
|
|
XM_011517603.2:c.1573C>T
|
XP_011515905.1:p.Arg525Ter
|
|
XM_011517604.1:c.1573C>T
|
XP_011515906.1:p.Arg525Ter
|
|
XM_011517605.1:c.1573C>T
|
XP_011515907.1:p.Arg525Ter
|
|
XM_011517606.1:c.1549C>T
|
XP_011515908.1:p.Arg517Ter
|
|
XM_011517607.1:c.1549C>T
|
XP_011515909.1:p.Arg517Ter
|
|
XM_011517607.2:c.1549C>T
|
XP_011515909.1:p.Arg517Ter
|
|
XM_011517608.1:c.1468C>T
|
XP_011515910.1:p.Arg490Ter
|
|
XM_011517609.1:c.694C>T
|
XP_011515911.1:p.Arg232Ter
|
|
XM_011517609.2:c.694C>T
|
XP_011515911.1:p.Arg232Ter
|
|
XM_011517610.1:c.214C>T
|
XP_011515912.1:p.Arg72Ter
|
|
XM_017013847.2:c.1678C>T
|
XP_016869336.1:p.Arg560Ter
|
|
XM_017013848.2:c.1654C>T
|
XP_016869337.1:p.Arg552Ter
|
|
XM_017013849.2:c.1615C>T
|
XP_016869338.1:p.Arg539Ter
|
|
XM_017013850.2:c.1573C>T
|
XP_016869339.1:p.Arg525Ter
|
|
XM_017013851.2:c.1426C>T
|
XP_016869340.1:p.Arg476Ter
|
|
XM_017013852.2:c.1573C>T
|
XP_016869341.1:p.Arg525Ter
|
|
XM_017013854.2:c.1222C>T
|
XP_016869343.1:p.Arg408Ter
|
|
XM_017013855.2:c.1141C>T
|
XP_016869344.1:p.Arg381Ter
|
|
XM_017013856.2:c.895C>T
|
XP_016869345.1:p.Arg299Ter
|
|
XM_017013858.2:c.214C>T
|
XP_016869347.1:p.Arg72Ter
|
|
XM_024447278.1:c.1549C>T
|
XP_024303046.1:p.Arg517Ter
|
|
XM_024447279.1:c.1468C>T
|
XP_024303047.1:p.Arg490Ter
|
|
XM_024447281.1:c.1426C>T
|
XP_024303049.1:p.Arg476Ter
|
|
XM_024447282.1:c.976C>T
|
XP_024303050.1:p.Arg326Ter
|
|
XM_024447283.1:c.652C>T
|
XP_024303051.1:p.Arg218Ter
|
|
XM_024447284.1:c.214C>T
|
XP_024303052.1:p.Arg72Ter
|