Linked Data
ClinVar Variation Id:
497902
dbSNP Id:
rs199692416
ExAC:
11:66291302 A / G
gnomAD v2:
11-66291302-A-G
gnomAD v3:
11-66523831-A-G
gnomAD v4:
11-66523831-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523831A>G , CM000673.2:g.66523831A>G | GRCh38 |
| NC_000011.9:g.66291302A>G , CM000673.1:g.66291302A>G | GRCh37 |
| NC_000011.8:g.66047878A>G | NCBI36 |
| NG_009093.1:g.18184A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1059A>G (BBS1) MANE Select | ENSP00000317469.7:p.Gly353= | |
| ENST00000318312.11:c.1059A>G (BBS1) | ENSP00000317469.7:p.Gly353= | |
| ENST00000393994.4:c.724-2292A>G (BBS1) | ENSP00000377563.2:n.724-2292A>G | |
| ENST00000419755.3:c.1170A>G | ENSP00000398526.3:p.Gly390= | |
| ENST00000455748.6:c.768A>G (BBS1) | ENSP00000405764.2:p.Gly256= | |
| ENST00000526760.5:c.*766A>G (BBS1) | ENSP00000432140.1:n.*766A>G | |
| ENST00000526986.5:c.*22-2365T>C (ZDHHC24) | ENSP00000431321.1:n.*22-2365T>C | |
| ENST00000527959.1:n.203A>G (BBS1) | ||
| ENST00000529766.5:n.1066A>G (BBS1) | ||
| ENST00000529895.1:n.508A>G (BBS1) | ||
| ENST00000529955.5:n.1030A>G (BBS1) | ||
| ENST00000532908.5:c.*719A>G (BBS1) | ENSP00000431866.1:n.*719A>G | |
| ENST00000534073.5:c.*143+324T>C (ZDHHC24) | ENSP00000436503.1:n.*143+324T>C | |
| ENST00000630659.2:c.*766A>G (BBS1) | ENSP00000486455.1:n.*766A>G | |
| NM_024649.4:c.1059A>G (BBS1) | NP_078925.3:p.Gly353= | |
| XM_005273874.3:c.*22-2365T>C (ZDHHC24) | XP_005273931.1:n.*22-2365T>C | |
| XR_949860.1:n.808+324T>C (ZDHHC24) | ||
| NM_001348571.1:c.*22-2365T>C (ZDHHC24) | NP_001335500.1:n.*22-2365T>C | |
| XM_005273874.4:c.*22-2365T>C (ZDHHC24) | XP_005273931.1:n.*22-2365T>C | |
| XR_001747823.2:n.862+324T>C (ZDHHC24) | ||
| XR_949860.3:n.933+324T>C (ZDHHC24) | ||
| NM_024649.5:c.1059A>G (BBS1) MANE Select | NP_078925.3:p.Gly353= | |
| NM_001348571.2:c.*22-2365T>C (ZDHHC24) | NP_001335500.1:n.*22-2365T>C |