gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67115408 (AFR)
Genomes Max Group AF
0.67115408 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.245641362A>G , CM000663.2:g.245641362A>G | GRCh38 |
| NC_000001.10:g.245804664A>G , CM000663.1:g.245804664A>G | GRCh37 |
| NC_000001.9:g.243871287A>G | NCBI36 |
| NG_053061.1:g.491378A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407071.7:c.2099-4759A>G MANE Select | ENSP00000385545.2:n.2099-4759A>G | |
| ENST00000366518.4:c.956-4759A>G | ENSP00000355475.4:n.956-4759A>G | |
| ENST00000407071.6:c.2099-4759A>G | ENSP00000385545.2:n.2099-4759A>G | |
| NM_018012.3:c.2099-4759A>G | NP_060482.2:n.2099-4759A>G | |
| XM_011544214.1:c.1661-4759A>G | XP_011542516.1:n.1661-4759A>G | |
| XM_011544215.1:c.1499-4759A>G | XP_011542517.1:n.1499-4759A>G | |
| XM_011544216.1:c.1499-4759A>G | XP_011542518.1:n.1499-4759A>G | |
| XM_011544217.1:c.1499-4759A>G | XP_011542519.1:n.1499-4759A>G | |
| XM_011544218.1:c.956-4759A>G | XP_011542520.1:n.956-4759A>G | |
| NM_018012.4:c.2099-4759A>G MANE Select | NP_060482.2:n.2099-4759A>G |