ENST00000318312.12:c.1042G>C
(BBS1)
MANE Select
|
ENSP00000317469.7:p.Ala348Pro
|
|
ENST00000318312.11:c.1042G>C
(BBS1)
|
ENSP00000317469.7:p.Ala348Pro
|
|
ENST00000393994.4:c.724-2309G>C
(BBS1)
|
ENSP00000377563.2:n.724-2309G>C
|
|
ENST00000419755.3:c.1153G>C
|
ENSP00000398526.3:p.Ala385Pro
|
|
ENST00000455748.6:c.751G>C
(BBS1)
|
ENSP00000405764.2:p.Ala251Pro
|
|
ENST00000526760.5:c.*749G>C
(BBS1)
|
ENSP00000432140.1:n.*749G>C
|
|
ENST00000526986.5:c.*22-2348C>G
(ZDHHC24)
|
ENSP00000431321.1:n.*22-2348C>G
|
|
ENST00000527959.1:n.186G>C
(BBS1)
|
|
|
ENST00000529766.5:n.1049G>C
(BBS1)
|
|
|
ENST00000529895.1:n.491G>C
(BBS1)
|
|
|
ENST00000529955.5:n.1013G>C
(BBS1)
|
|
|
ENST00000532908.5:c.*702G>C
(BBS1)
|
ENSP00000431866.1:n.*702G>C
|
|
ENST00000534073.5:c.*143+341C>G
(ZDHHC24)
|
ENSP00000436503.1:n.*143+341C>G
|
|
ENST00000630659.2:c.*749G>C
(BBS1)
|
ENSP00000486455.1:n.*749G>C
|
|
NM_024649.4:c.1042G>C
(BBS1)
|
NP_078925.3:p.Ala348Pro
|
|
XM_005273874.3:c.*22-2348C>G
(ZDHHC24)
|
XP_005273931.1:n.*22-2348C>G
|
|
XR_949860.1:n.808+341C>G
(ZDHHC24)
|
|
|
NM_001348571.1:c.*22-2348C>G
(ZDHHC24)
|
NP_001335500.1:n.*22-2348C>G
|
|
XM_005273874.4:c.*22-2348C>G
(ZDHHC24)
|
XP_005273931.1:n.*22-2348C>G
|
|
XR_001747823.2:n.862+341C>G
(ZDHHC24)
|
|
|
XR_949860.3:n.933+341C>G
(ZDHHC24)
|
|
|
NM_024649.5:c.1042G>C
(BBS1)
MANE Select
|
NP_078925.3:p.Ala348Pro
|
|
NM_001348571.2:c.*22-2348C>G
(ZDHHC24)
|
NP_001335500.1:n.*22-2348C>G
|
|