gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00104947 (AFR)
Genomes Max Group AF
0.00112885 (AFR)
Exomes Max Group AF
0.00076466 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157409934T>G , CM000669.2:g.157409934T>G | GRCh38 |
| NC_000007.13:g.157202628T>G , CM000669.1:g.157202628T>G | GRCh37 |
| NC_000007.12:g.156895389T>G | NCBI36 |
| NG_032573.1:g.77919T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.831T>G MANE Select | ENSP00000262177.4:p.Ser277= | |
| ENST00000262177.8:c.831T>G | ENSP00000262177.4:p.Ser277= | |
| ENST00000443280.5:c.486T>G | ENSP00000396267.1:p.Ser162= | |
| ENST00000459889.5:c.831T>G | ENSP00000488263.1:p.Ser277= | |
| ENST00000465908.5:n.627T>G | ||
| ENST00000634080.1:c.831T>G | ENSP00000488740.1:p.Ser277= | |
| NM_058246.3:c.831T>G | NP_490647.1:p.Ser277= | |
| XM_005249515.2:c.831T>G | XP_005249572.1:p.Ser277= | |
| XM_005249516.2:c.831T>G | XP_005249573.1:p.Ser277= | |
| XM_006715823.1:c.692-6082T>G | XP_006715886.1:n.692-6082T>G | |
| XM_011515704.1:c.831T>G | XP_011514006.1:p.Ser277= | |
| NM_001363676.1:c.486T>G | NP_001350605.1:p.Ser162= | |
| XM_005249515.3:c.831T>G | XP_005249572.1:p.Ser277= | |
| XM_006715823.2:c.692-6082T>G | XP_006715886.1:n.692-6082T>G | |
| NM_058246.4:c.831T>G MANE Select | NP_490647.1:p.Ser277= |