ENST00000699958.1:c.1138G>A
(MASP2)
|
ENSP00000514717.1:p.Asp380Asn
|
|
ENST00000700088.1:c.1243G>A
(MASP2)
|
ENSP00000514787.1:p.Asp415Asn
|
|
ENST00000700089.1:c.1240G>A
(MASP2)
|
ENSP00000514788.1:n.1240G>A
|
|
ENST00000700090.1:c.1122G>A
(MASP2)
|
ENSP00000514789.1:n.1122G>A
|
|
ENST00000700091.1:c.1045G>A
(MASP2)
|
ENSP00000514790.1:p.Asp349Asn
|
|
ENST00000700092.1:c.1222G>A
(MASP2)
|
ENSP00000514791.1:p.Asp408Asn
|
|
ENST00000700093.1:c.1219G>A
(MASP2)
|
ENSP00000514792.1:p.Asp407Asn
|
|
ENST00000700094.1:c.1251G>A
(MASP2)
|
ENSP00000514793.1:n.1251G>A
|
|
ENST00000700095.1:c.1243G>A
(MASP2)
|
ENSP00000514794.1:p.Asp415Asn
|
|
ENST00000700096.1:c.1046G>A
(MASP2)
|
ENSP00000514795.1:n.1046G>A
|
|
ENST00000700097.1:c.1243G>A
(MASP2)
|
ENSP00000514796.1:p.Asp415Asn
|
|
ENST00000400897.8:c.1243G>A
(MASP2)
MANE Select
|
ENSP00000383690.3:p.Asp415Asn
|
|
ENST00000607145.1:n.572C>T
|
|
|
ENST00000612387.1:n.353C>T
|
|
|
ENST00000400897.7:c.1243G>A
(MASP2)
|
ENSP00000383690.3:p.Asp415Asn
|
|
ENST00000611136.4:c.500C>T
|
|
|
ENST00000612542.1:c.258C>T
|
|
|
ENST00000614757.4:c.*504C>T
|
ENSP00000481867.1:n.*504C>T
|
|
ENST00000620028.1:n.468C>T
|
|
|
ENST00000622108.1:c.378C>T
|
ENSP00000480398.1:n.378C>T
|
|
NM_006610.3:c.1243G>A
(MASP2)
|
NP_006601.2:p.Asp415Asn
|
|
XM_017000863.2:c.*3555C>T
(TARDBP)
|
XP_016856352.1:n.*3555C>T
|
|
XM_017000864.2:c.*2439C>T
(TARDBP)
|
XP_016856353.1:n.*2439C>T
|
|
XM_017000865.2:c.*2324C>T
(TARDBP)
|
XP_016856354.1:n.*2324C>T
|
|
XR_001736931.1:n.1196G>A
(MASP2)
|
|
|
XR_002958895.1:n.1154G>A
(MASP2)
|
|
|
NM_006610.4:c.1243G>A
(MASP2)
MANE Select
|
NP_006601.2:p.Asp415Asn
|
|