gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00530766 (AFR)
Genomes Max Group AF
0.00530791 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50484788T>A , CM000684.2:g.50484788T>A | GRCh38 |
| NC_000022.10:g.50923217T>A , CM000684.1:g.50923217T>A | GRCh37 |
| NC_000022.9:g.49270083T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395737.2:c.*1885T>A (ADM2) MANE Select | ENSP00000379086.1:n.*1885T>A | |
| ENST00000395738.2:c.*1885T>A (ADM2) | ENSP00000379087.2:n.*1885T>A | |
| NM_001253845.1:c.*1885T>A (ADM2) | NP_001240774.1:n.*1885T>A | |
| NM_024866.5:c.*1885T>A (ADM2) | NP_079142.2:n.*1885T>A | |
| XM_011530705.1:c.-1664T>A (MIOX) | XP_011529007.1:n.-1664T>A | |
| XR_244455.2:n.801T>A (MIOX) | ||
| XM_011530705.2:c.-1664T>A (MIOX) | XP_011529007.1:n.-1664T>A | |
| XM_017028940.1:c.*1885T>A (ADM2) | XP_016884429.1:n.*1885T>A | |
| NM_001253845.2:c.*1885T>A (ADM2) MANE Select | NP_001240774.1:n.*1885T>A | |
| NM_001369882.1:c.*1885T>A (ADM2) | NP_001356811.1:n.*1885T>A |