Linked Data
ClinVar Variation Id:
2072095
ClinVar RCV Id:
RCV002962644
dbSNP Id:
rs759882869
ExAC:
11:66291318 C / T
gnomAD v2:
11-66291318-C-T
gnomAD v3:
11-66523847-C-T
gnomAD v4:
11-66523847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523847C>T , CM000673.2:g.66523847C>T | GRCh38 |
| NC_000011.9:g.66291318C>T , CM000673.1:g.66291318C>T | GRCh37 |
| NC_000011.8:g.66047894C>T | NCBI36 |
| NG_009093.1:g.18200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1075C>T (BBS1) MANE Select | ENSP00000317469.7:p.Arg359Cys | |
| ENST00000318312.11:c.1075C>T (BBS1) | ENSP00000317469.7:p.Arg359Cys | |
| ENST00000393994.4:c.724-2276C>T (BBS1) | ENSP00000377563.2:n.724-2276C>T | |
| ENST00000419755.3:c.1186C>T | ENSP00000398526.3:p.Arg396Cys | |
| ENST00000455748.6:c.784C>T (BBS1) | ENSP00000405764.2:p.Arg262Cys | |
| ENST00000526760.5:c.*782C>T (BBS1) | ENSP00000432140.1:n.*782C>T | |
| ENST00000526986.5:c.*22-2381G>A (ZDHHC24) | ENSP00000431321.1:n.*22-2381G>A | |
| ENST00000527959.1:n.219C>T (BBS1) | ||
| ENST00000529766.5:n.1082C>T (BBS1) | ||
| ENST00000529895.1:n.524C>T (BBS1) | ||
| ENST00000529955.5:n.1046C>T (BBS1) | ||
| ENST00000534073.5:c.*143+308G>A (ZDHHC24) | ENSP00000436503.1:n.*143+308G>A | |
| ENST00000630659.2:c.*782C>T (BBS1) | ENSP00000486455.1:n.*782C>T | |
| NM_024649.4:c.1075C>T (BBS1) | NP_078925.3:p.Arg359Cys | |
| XM_005273874.3:c.*22-2381G>A (ZDHHC24) | XP_005273931.1:n.*22-2381G>A | |
| XR_949860.1:n.808+308G>A (ZDHHC24) | ||
| NM_001348571.1:c.*22-2381G>A (ZDHHC24) | NP_001335500.1:n.*22-2381G>A | |
| XM_005273874.4:c.*22-2381G>A (ZDHHC24) | XP_005273931.1:n.*22-2381G>A | |
| XR_001747823.2:n.862+308G>A (ZDHHC24) | ||
| XR_949860.3:n.933+308G>A (ZDHHC24) | ||
| NM_024649.5:c.1075C>T (BBS1) MANE Select | NP_078925.3:p.Arg359Cys | |
| NM_001348571.2:c.*22-2381G>A (ZDHHC24) | NP_001335500.1:n.*22-2381G>A |