ENST00000318312.12:c.1295G>C
(BBS1)
MANE Select
|
ENSP00000317469.7:p.Arg432Pro
|
|
ENST00000318312.11:c.1295G>C
(BBS1)
|
ENSP00000317469.7:p.Arg432Pro
|
|
ENST00000393994.4:c.908G>C
(BBS1)
|
ENSP00000377563.2:p.Arg303Pro
|
|
ENST00000419755.3:c.1406G>C
|
ENSP00000398526.3:p.Arg469Pro
|
|
ENST00000455748.6:c.1004G>C
(BBS1)
|
ENSP00000405764.2:p.Arg335Pro
|
|
ENST00000526760.5:c.*1002G>C
(BBS1)
|
ENSP00000432140.1:n.*1002G>C
|
|
ENST00000526986.5:c.*21+173C>G
(ZDHHC24)
|
ENSP00000431321.1:n.*21+173C>G
|
|
ENST00000527959.1:n.439G>C
(BBS1)
|
|
|
ENST00000529766.5:n.1302G>C
(BBS1)
|
|
|
ENST00000529955.5:n.1266G>C
(BBS1)
|
|
|
ENST00000534073.5:c.*21+173C>G
(ZDHHC24)
|
ENSP00000436503.1:n.*21+173C>G
|
|
ENST00000630659.2:c.*1002G>C
(BBS1)
|
ENSP00000486455.1:n.*1002G>C
|
|
NM_024649.4:c.1295G>C
(BBS1)
|
NP_078925.3:p.Arg432Pro
|
|
XM_005273874.3:c.*21+173C>G
(ZDHHC24)
|
XP_005273931.1:n.*21+173C>G
|
|
XM_011544894.1:c.*21+173C>G
(ZDHHC24)
|
XP_011543196.1:n.*21+173C>G
|
|
XM_011544895.1:c.560-2487C>G
(ZDHHC24)
|
XP_011543197.1:n.560-2487C>G
|
|
XR_949860.1:n.686+173C>G
(ZDHHC24)
|
|
|
NM_001348571.1:c.*21+173C>G
(ZDHHC24)
|
NP_001335500.1:n.*21+173C>G
|
|
XM_005273874.4:c.*21+173C>G
(ZDHHC24)
|
XP_005273931.1:n.*21+173C>G
|
|
XM_011544894.2:c.*21+173C>G
(ZDHHC24)
|
XP_011543196.1:n.*21+173C>G
|
|
XR_001747823.2:n.741-2487C>G
(ZDHHC24)
|
|
|
XR_949860.3:n.811+173C>G
(ZDHHC24)
|
|
|
NM_024649.5:c.1295G>C
(BBS1)
MANE Select
|
NP_078925.3:p.Arg432Pro
|
|
NM_001348571.2:c.*21+173C>G
(ZDHHC24)
|
NP_001335500.1:n.*21+173C>G
|
|