gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98707902A>G , CM000677.2:g.98707902A>G | GRCh38 |
| NC_000015.9:g.99251131A>G , CM000677.1:g.99251131A>G | GRCh37 |
| NC_000015.8:g.97068654A>G | NCBI36 |
| NG_009492.1:g.63371A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.435A>G | ENSP00000496919.1:p.Lys145= | |
| ENST00000650285.1:c.435A>G MANE Select | ENSP00000497069.1:p.Lys145= | |
| ENST00000268035.10:c.435A>G | ENSP00000268035.6:p.Lys145= | |
| ENST00000558355.1:c.72A>G | ENSP00000453630.1:p.Lys24= | |
| ENST00000558762.5:c.435A>G | ENSP00000453007.1:p.Lys145= | |
| ENST00000559925.5:n.435A>G | ||
| NM_000875.4:c.435A>G | NP_000866.1:p.Lys145= | |
| NM_001291858.1:c.435A>G | NP_001278787.1:p.Lys145= | |
| XM_011521513.1:c.435A>G | XP_011519815.1:p.Lys145= | |
| XM_011521514.1:c.435A>G | XP_011519816.1:p.Lys145= | |
| XM_011521515.1:c.435A>G | XP_011519817.1:p.Lys145= | |
| XM_017022136.1:c.510A>G | XP_016877625.1:p.Lys170= | |
| XM_017022137.1:c.510A>G | XP_016877626.1:p.Lys170= | |
| XM_017022138.1:c.510A>G | XP_016877627.1:p.Lys170= | |
| XM_017022139.1:c.72A>G | XP_016877628.1:p.Lys24= | |
| NM_000875.5:c.435A>G MANE Select | NP_000866.1:p.Lys145= | |
| NM_001291858.2:c.435A>G | NP_001278787.1:p.Lys145= |