gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27320764 (AMR)
Genomes Max Group AF
0.27320764 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50835337A>G , CM000668.2:g.50835337A>G | GRCh38 |
| NC_000006.11:g.50803050A>G , CM000668.1:g.50803050A>G | GRCh37 |
| NC_000006.10:g.50911009A>G | NCBI36 |
| NG_008438.1:g.21612A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.602-724A>G MANE Select | ENSP00000377265.2:n.602-724A>G | |
| ENST00000393655.3:c.602-724A>G | ENSP00000377265.2:n.602-724A>G | |
| NM_003221.3:c.602-724A>G | NP_003212.2:n.602-724A>G | |
| XM_006715176.2:c.602-724A>G | XP_006715239.1:n.602-724A>G | |
| XM_006715177.2:c.548-724A>G | XP_006715240.1:n.548-724A>G | |
| XM_011514834.1:c.629-724A>G | XP_011513136.1:n.629-724A>G | |
| XM_011514835.1:c.629-724A>G | XP_011513137.1:n.629-724A>G | |
| XM_011514836.1:c.629-724A>G | XP_011513138.1:n.629-724A>G | |
| XM_011514837.1:c.629-724A>G | XP_011513139.1:n.629-724A>G | |
| XM_011514837.2:c.629-724A>G | XP_011513139.1:n.629-724A>G | |
| XM_017011233.1:c.767-724A>G | XP_016866722.1:n.767-724A>G | |
| XM_017011234.1:c.731-724A>G | XP_016866723.1:n.731-724A>G | |
| XM_017011235.2:c.143-724A>G | XP_016866724.1:n.143-724A>G | |
| NM_003221.4:c.602-724A>G MANE Select | NP_003212.2:n.602-724A>G |