gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78059671 (AFR)
Genomes Max Group AF
0.77610318 (AFR)
Exomes Max Group AF
0.78304944 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.659829A>G , CM000680.2:g.659829A>G | GRCh38 |
| NC_000018.9:g.659829A>G , CM000680.1:g.659829A>G | GRCh37 |
| NC_000018.8:g.649829A>G | NCBI36 |
| NG_028255.1:g.7226A>G , LRG_783:g.7226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323274.15:c.279+115A>G MANE Select | ENSP00000315644.10:n.279+115A>G | |
| ENST00000323224.7:c.279+115A>G | ENSP00000314727.7:n.279+115A>G | |
| ENST00000323250.9:c.205+1882A>G | ENSP00000314902.5:n.205+1882A>G | |
| ENST00000323274.14:c.279+115A>G | ENSP00000315644.10:n.279+115A>G | |
| ENST00000579128.1:n.357+115A>G | ||
| NM_001071.2:c.279+115A>G , LRG_783t1:c.279+115A>G | NP_001062.1:n.279+115A>G | |
| NM_001071.3:c.279+115A>G | NP_001062.1:n.279+115A>G | |
| NM_001354867.1:c.279+115A>G | NP_001341796.1:n.279+115A>G | |
| NM_001354868.1:c.205+1882A>G | NP_001341797.1:n.205+1882A>G | |
| NM_001071.4:c.279+115A>G MANE Select | NP_001062.1:n.279+115A>G | |
| NM_001354867.2:c.279+115A>G | NP_001341796.1:n.279+115A>G | |
| NM_001354868.2:c.205+1882A>G | NP_001341797.1:n.205+1882A>G |