gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3296566 (AFR)
Genomes Max Group AF
0.3296566 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.76291234A>G , CM000671.2:g.76291234A>G | GRCh38 |
| NC_000009.11:g.78906150A>G , CM000671.1:g.78906150A>G | GRCh37 |
| NC_000009.10:g.78095970A>G | NCBI36 |
| NG_029445.1:g.405591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674117.1:c.3143-999A>G MANE Select | ENSP00000500971.1:n.3143-999A>G | |
| ENST00000424854.6:c.2162-999A>G | ENSP00000411654.1:n.2162-999A>G | |
| ENST00000545128.5:c.3143-999A>G | ENSP00000446280.1:n.3143-999A>G | |
| NM_001190482.1:c.3143-999A>G | NP_001177411.1:n.3143-999A>G | |
| XM_005252039.2:c.3143-999A>G | XP_005252096.1:n.3143-999A>G | |
| XM_011518769.1:c.3143-999A>G | XP_011517071.1:n.3143-999A>G | |
| XM_011518770.1:c.1805-999A>G | XP_011517072.1:n.1805-999A>G | |
| XM_005252039.4:c.3143-999A>G | XP_005252096.1:n.3143-999A>G | |
| XM_011518769.3:c.3143-999A>G | XP_011517071.1:n.3143-999A>G | |
| XM_011518770.2:c.1805-999A>G | XP_011517072.1:n.1805-999A>G | |
| XM_017014800.1:c.1832-999A>G | XP_016870289.1:n.1832-999A>G | |
| NM_001372043.1:c.3143-999A>G MANE Select | NP_001358972.1:n.3143-999A>G | |
| NM_001190482.2:c.3143-999A>G | NP_001177411.1:n.3143-999A>G |