gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9372683 (AFR)
Genomes Max Group AF
0.93669303 (AFR)
Exomes Max Group AF
0.92973791 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88595833T>C , CM000664.2:g.88595833T>C | GRCh38 |
| NC_000002.11:g.88895351T>C , CM000664.1:g.88895351T>C | GRCh37 |
| NC_000002.10:g.88676466T>C | NCBI36 |
| NG_016424.1:g.36744A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682892.1:c.-15-170A>G | ENSP00000507214.1:n.-15-170A>G | |
| ENST00000303236.9:c.439-170A>G MANE Select | ENSP00000307235.3:n.439-170A>G | |
| ENST00000652099.1:c.437-170A>G | ||
| ENST00000652423.1:c.*123-170A>G | ENSP00000498948.1:n.*123-170A>G | |
| ENST00000652736.1:n.315-170A>G | ||
| ENST00000303236.7:c.439-170A>G | ENSP00000307235.3:n.439-170A>G | |
| ENST00000415570.1:c.-8A>G | ENSP00000412076.1:n.-8A>G | |
| ENST00000419748.5:c.-15-170A>G | ENSP00000408325.1:n.-15-170A>G | |
| NM_001313915.1:c.-15-170A>G | NP_001300844.1:n.-15-170A>G | |
| NM_004836.5:c.439-170A>G | NP_004827.4:n.439-170A>G | |
| NM_004836.6:c.439-170A>G | NP_004827.4:n.439-170A>G | |
| XR_939749.1:n.648-170A>G | ||
| XM_017005376.2:c.-442-170A>G | XP_016860865.1:n.-442-170A>G | |
| NM_004836.7:c.439-170A>G MANE Select | NP_004827.4:n.439-170A>G | |
| NM_001313915.2:c.-15-170A>G | NP_001300844.1:n.-15-170A>G |