ENST00000318312.12:c.970G>T
(BBS1)
MANE Select
|
ENSP00000317469.7:p.Val324Leu
|
|
ENST00000318312.11:c.970G>T
(BBS1)
|
ENSP00000317469.7:p.Val324Leu
|
|
ENST00000393994.4:c.724-2381G>T
(BBS1)
|
ENSP00000377563.2:n.724-2381G>T
|
|
ENST00000419755.3:c.1081G>T
|
ENSP00000398526.3:p.Val361Leu
|
|
ENST00000455748.6:c.679G>T
(BBS1)
|
ENSP00000405764.2:p.Val227Leu
|
|
ENST00000526760.5:c.*677G>T
(BBS1)
|
ENSP00000432140.1:n.*677G>T
|
|
ENST00000526986.5:c.*22-2276C>A
(ZDHHC24)
|
ENSP00000431321.1:n.*22-2276C>A
|
|
ENST00000527959.1:n.114G>T
(BBS1)
|
|
|
ENST00000529766.5:n.977G>T
(BBS1)
|
|
|
ENST00000529895.1:n.419G>T
(BBS1)
|
|
|
ENST00000529955.5:n.941G>T
(BBS1)
|
|
|
ENST00000532908.5:c.*630G>T
(BBS1)
|
ENSP00000431866.1:n.*630G>T
|
|
ENST00000534073.5:c.*143+413C>A
(ZDHHC24)
|
ENSP00000436503.1:n.*143+413C>A
|
|
ENST00000630659.2:c.*677G>T
(BBS1)
|
ENSP00000486455.1:n.*677G>T
|
|
NM_024649.4:c.970G>T
(BBS1)
|
NP_078925.3:p.Val324Leu
|
|
XM_005273874.3:c.*22-2276C>A
(ZDHHC24)
|
XP_005273931.1:n.*22-2276C>A
|
|
XR_949860.1:n.808+413C>A
(ZDHHC24)
|
|
|
NM_001348571.1:c.*22-2276C>A
(ZDHHC24)
|
NP_001335500.1:n.*22-2276C>A
|
|
XM_005273874.4:c.*22-2276C>A
(ZDHHC24)
|
XP_005273931.1:n.*22-2276C>A
|
|
XR_001747823.2:n.862+413C>A
(ZDHHC24)
|
|
|
XR_949860.3:n.933+413C>A
(ZDHHC24)
|
|
|
NM_024649.5:c.970G>T
(BBS1)
MANE Select
|
NP_078925.3:p.Val324Leu
|
|
NM_001348571.2:c.*22-2276C>A
(ZDHHC24)
|
NP_001335500.1:n.*22-2276C>A
|
|