gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48816032 (MID)
Genomes Max Group AF
0.32653847 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60489314T>C , CM000677.2:g.60489314T>C | GRCh38 |
| NC_000015.9:g.60781513T>C , CM000677.1:g.60781513T>C | GRCh37 |
| NC_000015.8:g.58568805T>C | NCBI36 |
| NG_029246.1:g.744990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.*8141A>G (RORA) MANE Select | ENSP00000335087.6:n.*8141A>G | |
| ENST00000335670.10:c.*8141A>G (RORA) | ENSP00000335087.6:n.*8141A>G | |
| NM_002943.3:c.*8141A>G (RORA) | NP_002934.1:n.*8141A>G | |
| NM_134260.2:c.*8141A>G (RORA) | NP_599022.1:n.*8141A>G | |
| NM_134261.2:c.*8141A>G (RORA) | NP_599023.1:n.*8141A>G | |
| NM_134262.2:c.*8141A>G (RORA) | NP_599024.1:n.*8141A>G | |
| NR_120339.1:n.289+723T>C (RORA-AS1) | ||
| NR_120340.1:n.289+723T>C (RORA-AS1) | ||
| NR_120341.1:n.221+9916T>C (RORA-AS1) | ||
| NR_120342.1:n.289+723T>C (RORA-AS1) | ||
| XM_005254584.3:c.*8141A>G (RORA) | XP_005254641.1:n.*8141A>G | |
| XM_011521873.1:c.*8141A>G (RORA) | XP_011520175.1:n.*8141A>G | |
| XM_011521874.1:c.*8141A>G (RORA) | XP_011520176.1:n.*8141A>G | |
| XM_011521875.1:c.*8141A>G (RORA) | XP_011520177.1:n.*8141A>G | |
| XM_011521876.1:c.*8141A>G (RORA) | XP_011520178.1:n.*8141A>G | |
| XM_011521877.1:c.*8141A>G (RORA) | XP_011520179.1:n.*8141A>G | |
| XM_011521878.1:c.*8141A>G (RORA) | XP_011520180.1:n.*8141A>G | |
| XM_011521879.1:c.*8141A>G (RORA) | XP_011520181.1:n.*8141A>G | |
| NM_134261.3:c.*8141A>G (RORA) MANE Select | NP_599023.1:n.*8141A>G | |
| NM_134262.3:c.*8141A>G (RORA) | NP_599024.1:n.*8141A>G | |
| NM_002943.4:c.*8141A>G (RORA) | NP_002934.1:n.*8141A>G | |
| NM_134260.3:c.*8141A>G (RORA) | NP_599022.1:n.*8141A>G |