gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45881777 (AFR)
Genomes Max Group AF
0.45987164 (AFR)
Exomes Max Group AF
0.4043732 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13831407A>G , CM000681.2:g.13831407A>G | GRCh38 |
| NC_000019.9:g.13942221A>G , CM000681.1:g.13942221A>G | GRCh37 |
| NC_000019.8:g.13803221A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590508.6:c.*357A>G MANE Select | ENSP00000468285.2:n.*357A>G | |
| ENST00000254323.6:c.*357A>G | ENSP00000254323.2:n.*357A>G | |
| NM_023072.2:c.*357A>G | NP_075560.2:n.*357A>G | |
| XM_005260023.2:c.*357A>G | XP_005260080.1:n.*357A>G | |
| XM_005260023.3:c.3678A>G | XP_005260080.1:n.3678A>G | |
| XM_017027153.1:c.*357A>G | XP_016882642.1:n.*357A>G | |
| XM_017027154.1:c.*357A>G | XP_016882643.1:n.*357A>G | |
| XM_017027155.1:c.*357A>G | XP_016882644.1:n.*357A>G | |
| XM_017027156.1:c.*357A>G | XP_016882645.1:n.*357A>G | |
| XM_024451657.1:c.*357A>G | XP_024307425.1:n.*357A>G | |
| NM_001367834.1:c.*357A>G | NP_001354763.1:n.*357A>G | |
| NM_001367834.2:c.*357A>G | NP_001354763.1:n.*357A>G | |
| NM_023072.3:c.*357A>G | NP_075560.2:n.*357A>G | |
| NM_001367834.3:c.*357A>G MANE Select | NP_001354763.1:n.*357A>G |