ENST00000318312.12:c.990C>G
(BBS1)
MANE Select
|
ENSP00000317469.7:p.Ile330Met
|
|
ENST00000318312.11:c.990C>G
(BBS1)
|
ENSP00000317469.7:p.Ile330Met
|
|
ENST00000393994.4:c.724-2361C>G
(BBS1)
|
ENSP00000377563.2:n.724-2361C>G
|
|
ENST00000419755.3:c.1101C>G
|
ENSP00000398526.3:p.Ile367Met
|
|
ENST00000455748.6:c.699C>G
(BBS1)
|
ENSP00000405764.2:p.Ile233Met
|
|
ENST00000526760.5:c.*697C>G
(BBS1)
|
ENSP00000432140.1:n.*697C>G
|
|
ENST00000526986.5:c.*22-2296G>C
(ZDHHC24)
|
ENSP00000431321.1:n.*22-2296G>C
|
|
ENST00000527959.1:n.134C>G
(BBS1)
|
|
|
ENST00000529766.5:n.997C>G
(BBS1)
|
|
|
ENST00000529895.1:n.439C>G
(BBS1)
|
|
|
ENST00000529955.5:n.961C>G
(BBS1)
|
|
|
ENST00000532908.5:c.*650C>G
(BBS1)
|
ENSP00000431866.1:n.*650C>G
|
|
ENST00000534073.5:c.*143+393G>C
(ZDHHC24)
|
ENSP00000436503.1:n.*143+393G>C
|
|
ENST00000630659.2:c.*697C>G
(BBS1)
|
ENSP00000486455.1:n.*697C>G
|
|
NM_024649.4:c.990C>G
(BBS1)
|
NP_078925.3:p.Ile330Met
|
|
XM_005273874.3:c.*22-2296G>C
(ZDHHC24)
|
XP_005273931.1:n.*22-2296G>C
|
|
XR_949860.1:n.808+393G>C
(ZDHHC24)
|
|
|
NM_001348571.1:c.*22-2296G>C
(ZDHHC24)
|
NP_001335500.1:n.*22-2296G>C
|
|
XM_005273874.4:c.*22-2296G>C
(ZDHHC24)
|
XP_005273931.1:n.*22-2296G>C
|
|
XR_001747823.2:n.862+393G>C
(ZDHHC24)
|
|
|
XR_949860.3:n.933+393G>C
(ZDHHC24)
|
|
|
NM_024649.5:c.990C>G
(BBS1)
MANE Select
|
NP_078925.3:p.Ile330Met
|
|
NM_001348571.2:c.*22-2296G>C
(ZDHHC24)
|
NP_001335500.1:n.*22-2296G>C
|
|