ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108299788G>A , CM000673.2:g.108299788G>A | GRCh38 |
| NC_000011.9:g.108170515G>A , CM000673.1:g.108170515G>A | GRCh37 |
| NC_000011.8:g.107675725G>A | NCBI36 |
| NG_009830.1:g.81957G>A , LRG_135:g.81957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5080G>A | ENSP00000388058.2:p.Ala1694Thr | |
| ENST00000713593.1:c.*4551G>A | ENSP00000518889.1:n.*4551G>A | |
| ENST00000278616.9:c.5080G>A | ENSP00000278616.4:p.Ala1694Thr | |
| ENST00000683174.1:n.6564G>A | ||
| ENST00000683524.1:n.304G>A | ||
| ENST00000684152.1:n.794G>A | ||
| ENST00000527805.6:c.*144G>A | ENSP00000435747.2:n.*144G>A | |
| ENST00000675595.1:c.*144G>A | ENSP00000502563.1:n.*144G>A | |
| ENST00000675843.1:c.5080G>A MANE Select | ENSP00000501606.1:p.Ala1694Thr | |
| ENST00000278616.8:c.5080G>A | ENSP00000278616.4:p.Ala1694Thr | |
| ENST00000452508.6:c.5080G>A | ENSP00000388058.2:p.Ala1694Thr | |
| ENST00000524792.5:n.1295G>A | ||
| ENST00000533690.5:n.484G>A | ||
| ENST00000534625.1:n.309G>A | ||
| NM_000051.3:c.5080G>A , LRG_135t1:c.5080G>A | NP_000042.3:p.Ala1694Thr | |
| XM_005271561.3:c.5080G>A | XP_005271618.2:p.Ala1694Thr | |
| XM_005271562.3:c.5080G>A | XP_005271619.2:p.Ala1694Thr | |
| XM_006718843.2:c.5080G>A | XP_006718906.1:p.Ala1694Thr | |
| XM_006718845.1:c.1036G>A | XP_006718908.1:p.Ala346Thr | |
| XM_011542840.1:c.5080G>A | XP_011541142.1:p.Ala1694Thr | |
| XM_011542841.1:c.5080G>A | XP_011541143.1:p.Ala1694Thr | |
| XM_011542842.1:c.4915G>A | XP_011541144.1:p.Ala1639Thr | |
| XM_011542843.1:c.5080G>A | XP_011541145.1:p.Ala1694Thr | |
| XM_011542844.1:c.4036G>A | XP_011541146.1:p.Ala1346Thr | |
| XM_011542845.1:c.3772G>A | XP_011541147.1:p.Ala1258Thr | |
| XM_011542846.1:c.5080G>A | XP_011541148.1:p.Ala1694Thr | |
| XM_011542847.1:c.151G>A | XP_011541149.1:p.Ala51Thr | |
| NM_001351834.1:c.5080G>A | NP_001338763.1:p.Ala1694Thr | |
| XM_005271562.5:c.5080G>A | XP_005271619.2:p.Ala1694Thr | |
| XM_006718843.4:c.5080G>A | XP_006718906.1:p.Ala1694Thr | |
| XM_006718845.2:c.1036G>A | XP_006718908.1:p.Ala346Thr | |
| XM_011542840.3:c.5080G>A | XP_011541142.1:p.Ala1694Thr | |
| XM_011542842.3:c.4915G>A | XP_011541144.1:p.Ala1639Thr | |
| XM_011542843.2:c.5080G>A | XP_011541145.1:p.Ala1694Thr | |
| XM_011542844.3:c.4036G>A | XP_011541146.1:p.Ala1346Thr | |
| XM_011542845.2:c.3772G>A | XP_011541147.1:p.Ala1258Thr | |
| XM_017017789.2:c.5080G>A | XP_016873278.1:p.Ala1694Thr | |
| XM_017017790.2:c.5080G>A | XP_016873279.1:p.Ala1694Thr | |
| XM_017017791.1:c.5080G>A | XP_016873280.1:p.Ala1694Thr | |
| XM_017017792.2:c.5080G>A | XP_016873281.1:p.Ala1694Thr | |
| XR_002957150.1:n.5680G>A | ||
| NM_001351834.2:c.5080G>A | NP_001338763.1:p.Ala1694Thr | |
| NM_000051.4:c.5080G>A MANE Select | NP_000042.3:p.Ala1694Thr |