ENST00000699927.1:n.422C>G
(MASP2)
|
|
|
ENST00000699958.1:c.1378C>G
(MASP2)
|
ENSP00000514717.1:p.Leu460Val
|
|
ENST00000700088.1:c.1298-615C>G
(MASP2)
|
ENSP00000514787.1:n.1298-615C>G
|
|
ENST00000700089.1:c.1480C>G
(MASP2)
|
ENSP00000514788.1:n.1480C>G
|
|
ENST00000700090.1:c.1362C>G
(MASP2)
|
ENSP00000514789.1:n.1362C>G
|
|
ENST00000700091.1:c.1285C>G
(MASP2)
|
ENSP00000514790.1:p.Leu429Val
|
|
ENST00000700092.1:c.1462C>G
(MASP2)
|
ENSP00000514791.1:p.Leu488Val
|
|
ENST00000700093.1:c.1459C>G
(MASP2)
|
ENSP00000514792.1:p.Leu487Val
|
|
ENST00000700094.1:c.1491C>G
(MASP2)
|
ENSP00000514793.1:n.1491C>G
|
|
ENST00000700095.1:c.1298-615C>G
(MASP2)
|
ENSP00000514794.1:n.1298-615C>G
|
|
ENST00000700096.1:c.1101-615C>G
(MASP2)
|
ENSP00000514795.1:n.1101-615C>G
|
|
ENST00000700097.1:c.1511C>G
(MASP2)
|
ENSP00000514796.1:n.1511C>G
|
|
ENST00000400897.8:c.1483C>G
(MASP2)
MANE Select
|
ENSP00000383690.3:p.Leu495Val
|
|
ENST00000400897.7:c.1483C>G
(MASP2)
|
ENSP00000383690.3:p.Leu495Val
|
|
ENST00000611136.4:c.448+2255G>C
|
|
|
ENST00000612542.1:c.206+2255G>C
|
|
|
ENST00000614757.4:c.*452+2255G>C
|
ENSP00000481867.1:n.*452+2255G>C
|
|
ENST00000620028.1:n.416+2255G>C
|
|
|
ENST00000622108.1:c.232-2224G>C
|
ENSP00000480398.1:n.232-2224G>C
|
|
NM_006610.3:c.1483C>G
(MASP2)
|
NP_006601.2:p.Leu495Val
|
|
XM_017000863.2:c.*3011+1798G>C
(TARDBP)
|
XP_016856352.1:n.*3011+1798G>C
|
|
XM_017000864.2:c.*1895+1798G>C
(TARDBP)
|
XP_016856353.1:n.*1895+1798G>C
|
|
XM_017000865.2:c.*1781-2224G>C
(TARDBP)
|
XP_016856354.1:n.*1781-2224G>C
|
|
NM_006610.4:c.1483C>G
(MASP2)
MANE Select
|
NP_006601.2:p.Leu495Val
|
|