gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15071319 (SAS)
Genomes Max Group AF
0.15071319 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162349734A>G , CM000663.2:g.162349734A>G | GRCh38 |
| NC_000001.10:g.162319524A>G , CM000663.1:g.162319524A>G | GRCh37 |
| NC_000001.9:g.160586148A>G | NCBI36 |
| NG_015979.1:g.284944A>G | |
| NG_015979.2:g.284944A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.596-5453A>G MANE Select | ENSP00000355133.5:n.596-5453A>G | |
| ENST00000361897.9:c.596-5453A>G | ENSP00000355133.5:n.596-5453A>G | |
| ENST00000430120.3:c.581-5453A>G | ENSP00000396713.3:n.581-5453A>G | |
| ENST00000530878.5:c.581-5453A>G | ENSP00000431586.1:n.581-5453A>G | |
| NM_001164757.1:c.581-5453A>G | NP_001158229.1:n.581-5453A>G | |
| NM_014697.2:c.596-5453A>G | NP_055512.1:n.596-5453A>G | |
| NM_014697.3:c.596-5453A>G MANE Select | NP_055512.1:n.596-5453A>G | |
| NM_001164757.2:c.581-5453A>G | NP_001158229.1:n.581-5453A>G |