Linked Data
ClinVar Variation Id:
96130
dbSNP Id:
rs398124402
ExAC:
11:66298357 C / T
gnomAD v2:
11-66298357-C-T
gnomAD v3:
11-66530886-C-T
gnomAD v4:
11-66530886-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66530886C>T , CM000673.2:g.66530886C>T | GRCh38 |
| NC_000011.9:g.66298357C>T , CM000673.1:g.66298357C>T | GRCh37 |
| NC_000011.8:g.66054933C>T | NCBI36 |
| NG_009093.1:g.25239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.1474-8C>T (BBS1) MANE Select | ENSP00000317469.7:n.1474-8C>T | |
| ENST00000318312.11:c.1474-8C>T (BBS1) | ENSP00000317469.7:n.1474-8C>T | |
| ENST00000393994.4:c.1087-8C>T (BBS1) | ENSP00000377563.2:n.1087-8C>T | |
| ENST00000419755.3:c.1585-8C>T | ENSP00000398526.3:n.1585-8C>T | |
| ENST00000455748.6:c.1183-8C>T (BBS1) | ENSP00000405764.2:n.1183-8C>T | |
| ENST00000526760.5:c.*1181-8C>T (BBS1) | ENSP00000432140.1:n.*1181-8C>T | |
| ENST00000526986.5:c.560-1398G>A (ZDHHC24) | ENSP00000431321.1:n.560-1398G>A | |
| ENST00000529955.5:n.1445-8C>T (BBS1) | ||
| ENST00000534073.5:c.560-3880G>A (ZDHHC24) | ENSP00000436503.1:n.560-3880G>A | |
| ENST00000630659.2:c.*1181-8C>T (BBS1) | ENSP00000486455.1:n.*1181-8C>T | |
| NM_024649.4:c.1474-8C>T (BBS1) | NP_078925.3:n.1474-8C>T | |
| XM_005273874.3:c.560-3880G>A (ZDHHC24) | XP_005273931.1:n.560-3880G>A | |
| XM_011544891.1:c.560-1398G>A (ZDHHC24) | XP_011543193.1:n.560-1398G>A | |
| XM_011544894.1:c.560-3880G>A (ZDHHC24) | XP_011543196.1:n.560-3880G>A | |
| XM_011544895.1:c.560-6610G>A (ZDHHC24) | XP_011543197.1:n.560-6610G>A | |
| XR_949860.1:n.616-3880G>A (ZDHHC24) | ||
| NM_001348571.1:c.560-1398G>A (ZDHHC24) | NP_001335500.1:n.560-1398G>A | |
| XM_005273874.4:c.560-3880G>A (ZDHHC24) | XP_005273931.1:n.560-3880G>A | |
| XM_011544894.2:c.560-3880G>A (ZDHHC24) | XP_011543196.1:n.560-3880G>A | |
| XR_001747823.2:n.741-6610G>A (ZDHHC24) | ||
| XR_949860.3:n.741-3880G>A (ZDHHC24) | ||
| NM_024649.5:c.1474-8C>T (BBS1) MANE Select | NP_078925.3:n.1474-8C>T | |
| NM_001348571.2:c.560-1398G>A (ZDHHC24) | NP_001335500.1:n.560-1398G>A |