gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87594125 (EAS)
Genomes Max Group AF
0.87594125 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60591082C>A , CM000677.2:g.60591082C>A | GRCh38 |
| NC_000015.9:g.60883281C>A , CM000677.1:g.60883281C>A | GRCh37 |
| NC_000015.8:g.58670573C>A | NCBI36 |
| NG_029246.1:g.643222G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.197-59231G>T (RORA) MANE Select | ENSP00000335087.6:n.197-59231G>T | |
| ENST00000261523.9:c.138-32776G>T (RORA) | ENSP00000261523.5:n.138-32776G>T | |
| ENST00000309157.8:c.271+23812G>T (RORA) | ENSP00000309753.3:n.271+23812G>T | |
| ENST00000335670.10:c.197-59231G>T (RORA) | ENSP00000335087.6:n.197-59231G>T | |
| ENST00000449337.6:c.31+1305G>T (RORA) | ENSP00000402971.2:n.31+1305G>T | |
| ENST00000551975.5:c.194-59231G>T (RORA) | ||
| ENST00000557822.5:n.222-59231G>T (RORA) | ||
| ENST00000558234.1:n.131+1305G>T (RORA) | ||
| ENST00000559343.1:c.202+1726G>T (RORA) | ENSP00000453322.1:n.202+1726G>T | |
| ENST00000560004.5:n.152-59231G>T (RORA) | ||
| NM_002943.3:c.271+23812G>T (RORA) | NP_002934.1:n.271+23812G>T | |
| NM_134260.2:c.138-32776G>T (RORA) | NP_599022.1:n.138-32776G>T | |
| NM_134261.2:c.197-59231G>T (RORA) | NP_599023.1:n.197-59231G>T | |
| NM_134262.2:c.31+1305G>T (RORA) | NP_599024.1:n.31+1305G>T | |
| NR_120341.1:n.348-7366C>A (RORA-AS1) | ||
| NR_120342.1:n.416-7366C>A (RORA-AS1) | ||
| XM_005254584.3:c.59-59231G>T (RORA) | XP_005254641.1:n.59-59231G>T | |
| XM_011521874.1:c.202+1726G>T (RORA) | XP_011520176.1:n.202+1726G>T | |
| XM_011521875.1:c.140-59231G>T (RORA) | XP_011520177.1:n.140-59231G>T | |
| XM_011521876.1:c.65-59231G>T (RORA) | XP_011520178.1:n.65-59231G>T | |
| XM_011521877.1:c.28+2614G>T (RORA) | XP_011520179.1:n.28+2614G>T | |
| XM_011521878.1:c.-215-59231G>T (RORA) | XP_011520180.1:n.-215-59231G>T | |
| XM_005254584.5:c.59-59231G>T (RORA) | XP_005254641.1:n.59-59231G>T | |
| XM_011521875.2:c.140-59231G>T (RORA) | XP_011520177.1:n.140-59231G>T | |
| XM_011521877.3:c.28+2614G>T (RORA) | XP_011520179.1:n.28+2614G>T | |
| XM_011521878.2:c.-215-59231G>T (RORA) | XP_011520180.1:n.-215-59231G>T | |
| XM_017022467.2:c.-216+36156G>T (RORA) | XP_016877956.1:n.-216+36156G>T | |
| NM_134261.3:c.197-59231G>T (RORA) MANE Select | NP_599023.1:n.197-59231G>T | |
| NM_134262.3:c.31+1305G>T (RORA) | NP_599024.1:n.31+1305G>T | |
| NM_002943.4:c.271+23812G>T (RORA) | NP_002934.1:n.271+23812G>T | |
| NM_134260.3:c.138-32776G>T (RORA) | NP_599022.1:n.138-32776G>T |