Linked Data
ClinVar Variation Id:
2083073
ClinVar RCV Id:
RCV002999623
dbSNP Id:
rs113994179
gnomAD v2:
11-66290924-C-T
gnomAD v4:
11-66523453-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523453C>T , CM000673.2:g.66523453C>T | GRCh38 |
| NC_000011.9:g.66290924C>T , CM000673.1:g.66290924C>T | GRCh37 |
| NC_000011.8:g.66047500C>T | NCBI36 |
| NG_009093.1:g.17806C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.831-3C>T (BBS1) MANE Select | ENSP00000317469.7:n.831-3C>T | |
| ENST00000318312.11:c.831-3C>T (BBS1) | ENSP00000317469.7:n.831-3C>T | |
| ENST00000393994.4:c.724-2670C>T (BBS1) | ENSP00000377563.2:n.724-2670C>T | |
| ENST00000419755.3:c.942-3C>T | ENSP00000398526.3:n.942-3C>T | |
| ENST00000455748.6:c.540-3C>T (BBS1) | ENSP00000405764.2:n.540-3C>T | |
| ENST00000524458.5:c.*620-3C>T (BBS1) | ENSP00000436195.1:n.*620-3C>T | |
| ENST00000524884.1:n.516-3C>T (BBS1) | ||
| ENST00000525809.5:c.558-3C>T (BBS1) | ENSP00000431187.1:n.558-3C>T | |
| ENST00000526035.5:c.*534-3C>T (BBS1) | ENSP00000434197.1:n.*534-3C>T | |
| ENST00000526760.5:c.*538-3C>T (BBS1) | ENSP00000432140.1:n.*538-3C>T | |
| ENST00000526986.5:c.*22-1987G>A (ZDHHC24) | ENSP00000431321.1:n.*22-1987G>A | |
| ENST00000529766.5:n.838-3C>T (BBS1) | ||
| ENST00000529895.1:n.277C>T (BBS1) | ||
| ENST00000529955.5:n.802-3C>T (BBS1) | ||
| ENST00000532908.5:c.*491-3C>T (BBS1) | ENSP00000431866.1:n.*491-3C>T | |
| ENST00000533557.5:c.*685-3C>T (BBS1) | ENSP00000434619.1:n.*685-3C>T | |
| ENST00000533644.5:c.*289-3C>T (BBS1) | ENSP00000436073.1:n.*289-3C>T | |
| ENST00000534073.5:c.*143+702G>A (ZDHHC24) | ENSP00000436503.1:n.*143+702G>A | |
| ENST00000630659.2:c.*538-3C>T (BBS1) | ENSP00000486455.1:n.*538-3C>T | |
| NM_024649.4:c.831-3C>T (BBS1) | NP_078925.3:n.831-3C>T | |
| XM_005273874.3:c.*22-1987G>A (ZDHHC24) | XP_005273931.1:n.*22-1987G>A | |
| XR_949860.1:n.808+702G>A (ZDHHC24) | ||
| NM_001348571.1:c.*22-1987G>A (ZDHHC24) | NP_001335500.1:n.*22-1987G>A | |
| XM_005273874.4:c.*22-1987G>A (ZDHHC24) | XP_005273931.1:n.*22-1987G>A | |
| XR_001747823.2:n.862+702G>A (ZDHHC24) | ||
| XR_949860.3:n.933+702G>A (ZDHHC24) | ||
| NM_024649.5:c.831-3C>T (BBS1) MANE Select | NP_078925.3:n.831-3C>T | |
| NM_001348571.2:c.*22-1987G>A (ZDHHC24) | NP_001335500.1:n.*22-1987G>A |