COSMIC:
COSN19612391 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67432508 (EAS)
Genomes Max Group AF
0.67432508 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33079254T>C , CM000668.2:g.33079254T>C | GRCh38 |
| NC_000006.11:g.33047031T>C , CM000668.1:g.33047031T>C | GRCh37 |
| NC_000006.10:g.33155009T>C | NCBI36 |
| NG_033241.1:g.6525A>G | |
| NG_033242.1:g.8329T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.101-1418T>C (HLA-DPB1) MANE Select | ENSP00000408146.2:n.101-1418T>C | |
| ENST00000417724.1:c.-141+1426A>G (HLA-DPA1) | ENSP00000398134.1:n.-141+1426A>G | |
| ENST00000418931.6:c.101-1418T>C (HLA-DPB1) | ENSP00000408146.2:n.101-1418T>C | |
| ENST00000419277.5:c.-100+1426A>G (HLA-DPA1) | ENSP00000393566.1:n.-100+1426A>G | |
| ENST00000453337.1:c.-203+1426A>G (HLA-DPA1) | ENSP00000390929.1:n.-203+1426A>G | |
| ENST00000469120.1:n.133-1418T>C (HLA-DPB1) | ||
| ENST00000476642.5:n.76+1426A>G (HLA-DPA1) | ||
| NM_001242524.1:c.-100+1426A>G (HLA-DPA1) | NP_001229453.1:n.-100+1426A>G | |
| NM_001242525.1:c.-24+1426A>G (HLA-DPA1) | NP_001229454.1:n.-24+1426A>G | |
| NM_002121.5:c.101-1418T>C (HLA-DPB1) | NP_002112.3:n.101-1418T>C | |
| NM_002121.6:c.101-1418T>C (HLA-DPB1) MANE Select | NP_002112.3:n.101-1418T>C | |
| NM_001242524.2:c.-100+1426A>G (HLA-DPA1) | NP_001229453.1:n.-100+1426A>G | |
| NM_001242525.2:c.-24+1426A>G (HLA-DPA1) | NP_001229454.1:n.-24+1426A>G |