gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004384 (AFR)
Exomes Max Group AF
0.00009816 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83353158T>A , CM000667.2:g.83353158T>A | GRCh38 |
| NC_000005.9:g.82648977T>A , CM000667.1:g.82648977T>A | GRCh37 |
| NC_000005.8:g.82684733T>A | NCBI36 |
| NG_047086.1:g.280750T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396027.9:c.921T>A MANE Select | ENSP00000379344.4:p.Ser307= | |
| ENST00000282268.7:c.921T>A | ENSP00000282268.3:p.Ser307= | |
| ENST00000338635.10:c.927T>A | ENSP00000342011.6:p.Ser309= | |
| ENST00000396027.8:c.921T>A | ENSP00000379344.4:p.Ser307= | |
| ENST00000511817.1:c.927T>A | ENSP00000421491.1:p.Ser309= | |
| NM_003401.3:c.921T>A | NP_003392.1:p.Ser307= | |
| NM_022406.2:c.927T>A | NP_071801.1:p.Ser309= | |
| NM_022550.2:c.921T>A | NP_072044.1:p.Ser307= | |
| XM_005248595.1:c.927T>A | XP_005248652.1:p.Ser309= | |
| XM_011543626.1:c.927T>A | XP_011541928.1:p.Ser309= | |
| XM_011543629.1:c.267T>A | XP_011541931.1:p.Ser89= | |
| NM_001318012.1:c.927T>A | NP_001304941.1:p.Ser309= | |
| NM_003401.4:c.921T>A | NP_003392.1:p.Ser307= | |
| NM_022406.3:c.927T>A | NP_071801.1:p.Ser309= | |
| NM_022550.3:c.921T>A | NP_072044.1:p.Ser307= | |
| XM_017009827.2:c.894-17109T>A | XP_016865316.1:n.894-17109T>A | |
| NM_001318012.2:c.927T>A | NP_001304941.1:p.Ser309= | |
| NM_003401.5:c.921T>A MANE Select | NP_003392.1:p.Ser307= | |
| NM_022406.4:c.927T>A | NP_071801.1:p.Ser309= | |
| NM_001318012.3:c.927T>A | NP_001304941.1:p.Ser309= | |
| NM_022406.5:c.927T>A | NP_071801.1:p.Ser309= | |
| NM_022550.4:c.921T>A | NP_072044.1:p.Ser307= |