Linked Data
ClinVar Variation Id:
1037324
dbSNP Id:
rs765494351
ExAC:
11:66291249 C / G
gnomAD v2:
11-66291249-C-G
gnomAD v4:
11-66523778-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523778C>G , CM000673.2:g.66523778C>G | GRCh38 |
| NC_000011.9:g.66291249C>G , CM000673.1:g.66291249C>G | GRCh37 |
| NC_000011.8:g.66047825C>G | NCBI36 |
| NG_009093.1:g.18131C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1006C>G (BBS1) MANE Select | ENSP00000317469.7:p.Leu336Val | |
| ENST00000318312.11:c.1006C>G (BBS1) | ENSP00000317469.7:p.Leu336Val | |
| ENST00000393994.4:c.724-2345C>G (BBS1) | ENSP00000377563.2:n.724-2345C>G | |
| ENST00000419755.3:c.1117C>G | ENSP00000398526.3:p.Leu373Val | |
| ENST00000455748.6:c.715C>G (BBS1) | ENSP00000405764.2:p.Leu239Val | |
| ENST00000526760.5:c.*713C>G (BBS1) | ENSP00000432140.1:n.*713C>G | |
| ENST00000526986.5:c.*22-2312G>C (ZDHHC24) | ENSP00000431321.1:n.*22-2312G>C | |
| ENST00000527959.1:n.150C>G (BBS1) | ||
| ENST00000529766.5:n.1013C>G (BBS1) | ||
| ENST00000529895.1:n.455C>G (BBS1) | ||
| ENST00000529955.5:n.977C>G (BBS1) | ||
| ENST00000532908.5:c.*666C>G (BBS1) | ENSP00000431866.1:n.*666C>G | |
| ENST00000534073.5:c.*143+377G>C (ZDHHC24) | ENSP00000436503.1:n.*143+377G>C | |
| ENST00000630659.2:c.*713C>G (BBS1) | ENSP00000486455.1:n.*713C>G | |
| NM_024649.4:c.1006C>G (BBS1) | NP_078925.3:p.Leu336Val | |
| XM_005273874.3:c.*22-2312G>C (ZDHHC24) | XP_005273931.1:n.*22-2312G>C | |
| XR_949860.1:n.808+377G>C (ZDHHC24) | ||
| NM_001348571.1:c.*22-2312G>C (ZDHHC24) | NP_001335500.1:n.*22-2312G>C | |
| XM_005273874.4:c.*22-2312G>C (ZDHHC24) | XP_005273931.1:n.*22-2312G>C | |
| XR_001747823.2:n.862+377G>C (ZDHHC24) | ||
| XR_949860.3:n.933+377G>C (ZDHHC24) | ||
| NM_024649.5:c.1006C>G (BBS1) MANE Select | NP_078925.3:p.Leu336Val | |
| NM_001348571.2:c.*22-2312G>C (ZDHHC24) | NP_001335500.1:n.*22-2312G>C |