gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00116695 (NFE)
Genomes Max Group AF
0.00079484 (NFE)
Exomes Max Group AF
0.00117905 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114403992G>A , CM000671.2:g.114403992G>A | GRCh38 |
| NC_000009.11:g.117166272G>A , CM000671.1:g.117166272G>A | GRCh37 |
| NC_000009.10:g.116206093G>A | NCBI36 |
| NG_016700.1:g.106465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.666C>T | ENSP00000514396.1:p.Ser222= | |
| ENST00000362057.4:c.2322C>T MANE Select | ENSP00000354623.3:p.Ser774= | |
| ENST00000674036.8:c.1295C>T | ||
| ENST00000674048.1:n.2203C>T | ||
| ENST00000265134.10:c.1173C>T | ENSP00000265134.6:p.Ser391= | |
| ENST00000362057.3:c.2322C>T | ENSP00000354623.3:p.Ser774= | |
| ENST00000374059.7:c.1269C>T | ENSP00000363172.3:p.Ser423= | |
| NM_001083885.2:c.1173C>T | NP_001077354.2:p.Ser391= | |
| NM_001173425.1:c.2319C>T | NP_001166896.1:p.Ser773= | |
| NM_015404.3:c.2322C>T | NP_056219.3:p.Ser774= | |
| XM_005251897.3:c.1659C>T | XP_005251954.2:p.Ser553= | |
| XM_011518484.1:c.2355C>T | XP_011516786.1:p.Ser785= | |
| XM_011518485.1:c.2355C>T | XP_011516787.1:p.Ser785= | |
| XM_011518486.1:c.2352C>T | XP_011516788.1:p.Ser784= | |
| XM_011518487.1:c.2229C>T | XP_011516789.1:p.Ser743= | |
| XM_011518488.1:c.2112C>T | XP_011516790.1:p.Ser704= | |
| XM_011518495.1:c.1032C>T | XP_011516797.1:p.Ser344= | |
| XR_929747.1:n.3259C>T | ||
| XR_929748.1:n.3157C>T | ||
| NM_001346890.1:c.1269C>T | NP_001333819.1:p.Ser423= | |
| XM_011518486.2:c.2352C>T | XP_011516788.1:p.Ser784= | |
| XM_011518487.2:c.2229C>T | XP_011516789.1:p.Ser743= | |
| XM_011518488.2:c.2112C>T | XP_011516790.1:p.Ser704= | |
| XR_929747.2:n.2570C>T | ||
| XR_929748.2:n.2468C>T | ||
| NM_015404.4:c.2322C>T MANE Select | NP_056219.3:p.Ser774= | |
| NM_001173425.2:c.2319C>T | NP_001166896.1:p.Ser773= | |
| NM_001083885.3:c.1173C>T | NP_001077354.2:p.Ser391= |