gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020963 (EAS)
Genomes Max Group AF
0.00015677 (EAS)
Exomes Max Group AF
0.00017796 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60627500T>A , CM000677.2:g.60627500T>A | GRCh38 |
| NC_000015.9:g.60919699T>A , CM000677.1:g.60919699T>A | GRCh37 |
| NC_000015.8:g.58706991T>A | NCBI36 |
| NG_029246.1:g.606804A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.196+51157A>T (RORA) MANE Select | ENSP00000335087.6:n.196+51157A>T | |
| ENST00000335670.10:c.196+51157A>T (RORA) | ENSP00000335087.6:n.196+51157A>T | |
| ENST00000551975.5:c.193+49651A>T (RORA) | ||
| ENST00000557822.5:n.221+51157A>T (RORA) | ||
| ENST00000560004.5:n.151+51157A>T (RORA) | ||
| NM_002943.3:c.-126A>T (RORA) | NP_002934.1:n.-126A>T | |
| NM_134260.2:c.-126A>T (RORA) | NP_599022.1:n.-126A>T | |
| NM_134261.2:c.196+51157A>T (RORA) | NP_599023.1:n.196+51157A>T | |
| NR_120341.1:n.500-2944T>A (RORA-AS1) | ||
| NR_120342.1:n.568-2944T>A (RORA-AS1) | ||
| XM_005254584.3:c.58+51157A>T (RORA) | XP_005254641.1:n.58+51157A>T | |
| XM_011521875.1:c.139+51157A>T (RORA) | XP_011520177.1:n.139+51157A>T | |
| XM_011521876.1:c.64+51157A>T (RORA) | XP_011520178.1:n.64+51157A>T | |
| XM_011521878.1:c.-216+49651A>T (RORA) | XP_011520180.1:n.-216+49651A>T | |
| XM_005254584.5:c.58+51157A>T (RORA) | XP_005254641.1:n.58+51157A>T | |
| XM_011521875.2:c.139+51157A>T (RORA) | XP_011520177.1:n.139+51157A>T | |
| XM_011521878.2:c.-216+49651A>T (RORA) | XP_011520180.1:n.-216+49651A>T | |
| XM_017022467.2:c.-478A>T (RORA) | XP_016877956.1:n.-478A>T | |
| NM_134261.3:c.196+51157A>T (RORA) MANE Select | NP_599023.1:n.196+51157A>T | |
| NM_002943.4:c.-126A>T (RORA) | NP_002934.1:n.-126A>T | |
| NM_134260.3:c.-126A>T (RORA) | NP_599022.1:n.-126A>T |