gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40474434 (AFR)
Genomes Max Group AF
0.40678725 (AFR)
Exomes Max Group AF
0.39346478 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9115989T>C , CM000674.2:g.9115989T>C | GRCh38 |
| NC_000012.11:g.9268585T>C , CM000674.1:g.9268585T>C | GRCh37 |
| NC_000012.10:g.9159852T>C | NCBI36 |
| NG_011717.1:g.4974A>G | |
| NG_011717.2:g.4974A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.11:c.-140A>G (A2M) | ENSP00000323929.7:n.-140A>G | |
| ENST00000404455.2:c.-17-123A>G (A2M) | ENSP00000385710.2:n.-17-123A>G | |
| ENST00000467091.1:n.73A>G (A2M) | ||
| ENST00000497324.1:n.29A>G (A2M) | ||
| NM_000014.5:c.-140A>G (A2M) | NP_000005.2:n.-140A>G | |
| NM_001347423.1:c.-17-123A>G (A2M) | NP_001334352.1:n.-17-123A>G | |
| NM_001347424.1:c.-593A>G (A2M) | NP_001334353.1:n.-593A>G | |
| NM_001347425.1:c.-430A>G (A2M) | NP_001334354.1:n.-430A>G | |
| XM_017018683.1:c.*34-9385T>C (KLRG1) | XP_016874172.1:n.*34-9385T>C | |
| XM_017018684.1:c.*34-19097T>C (KLRG1) | XP_016874173.1:n.*34-19097T>C | |
| XM_017018685.1:c.*33+57823T>C (KLRG1) | XP_016874174.1:n.*33+57823T>C | |
| NM_001347423.2:c.-17-123A>G (A2M) | NP_001334352.2:n.-17-123A>G |