Revel Score:
ENST00000519767
0.297
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000879 (SAS)
Exomes Max Group AF
0.00000929 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43771240C>G , CM000668.2:g.43771240C>G | GRCh38 |
| NC_000006.11:g.43738977C>G , CM000668.1:g.43738977C>G | GRCh37 |
| NC_000006.10:g.43846955C>G | NCBI36 |
| NG_008732.1:g.6025C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425836.9:c.534C>G (VEGFA) | ENSP00000388465.4:p.Ser178= | |
| ENST00000425836.8:c.534C>G (VEGFA) | ENSP00000388465.4:p.Ser178= | |
| ENST00000672860.3:c.534C>G (VEGFA) MANE Select | ENSP00000500082.3:p.Ser178= | |
| ENST00000324450.11:c.534C>G (VEGFA) | ENSP00000317598.7:p.Ser178= | |
| ENST00000372055.9:c.534C>G (VEGFA) | ENSP00000361125.5:p.Ser178= | |
| ENST00000372064.9:c.534C>G (VEGFA) | ENSP00000361134.5:p.Ser178= | |
| ENST00000372067.8:c.534C>G (VEGFA) | ENSP00000361137.4:p.Ser178= | |
| ENST00000413642.8:c.534C>G (VEGFA) | ENSP00000389864.4:p.Ser178= | |
| ENST00000417285.7:c.534C>G (VEGFA) | ENSP00000388663.3:p.Ser178= | |
| ENST00000425836.7:c.534C>G (VEGFA) | ENSP00000388465.3:p.Ser178= | |
| ENST00000482630.7:c.534C>G (VEGFA) | ENSP00000421561.2:p.Ser178= | |
| ENST00000672860.2:c.534C>G (VEGFA) | ENSP00000500082.2:p.Ser178= | |
| ENST00000324450.10:c.534C>G (VEGFA) | ENSP00000317598.6:p.Ser178= | |
| ENST00000372055.8:c.534C>G (VEGFA) | ENSP00000361125.4:p.Ser178= | |
| ENST00000372064.8:c.534C>G (VEGFA) | ENSP00000361134.4:p.Ser178= | |
| ENST00000372067.7:c.534C>G (VEGFA) | ENSP00000361137.3:p.Ser178= | |
| ENST00000372077.8:c.-7C>G (VEGFA) | ENSP00000361148.4:n.-7C>G | |
| ENST00000413642.7:c.534C>G (VEGFA) | ENSP00000389864.3:p.Ser178= | |
| ENST00000417285.6:c.534C>G (VEGFA) | ENSP00000388663.2:p.Ser178= | |
| ENST00000425836.6:c.534C>G (VEGFA) | ENSP00000388465.2:p.Ser178= | |
| ENST00000476772.5:n.1057C>G (VEGFA) | ||
| ENST00000482630.6:c.534C>G (VEGFA) | ENSP00000421561.1:p.Ser178= | |
| ENST00000518538.5:n.88C>G (VEGFA) | ||
| ENST00000519767.5:c.448C>G (VEGFA) | ||
| ENST00000520948.5:c.-7C>G (VEGFA) | ENSP00000428321.1:n.-7C>G | |
| ENST00000523873.5:c.-7C>G (VEGFA) | ENSP00000430479.1:n.-7C>G | |
| ENST00000523950.5:c.-7C>G (VEGFA) | ENSP00000429643.1:n.-7C>G | |
| ENST00000611736.4:c.534C>G (VEGFA) | ENSP00000478570.1:p.Ser178= | |
| ENST00000615393.4:c.534C>G (VEGFA) | ENSP00000478034.1:p.Ser178= | |
| ENST00000617771.4:c.534C>G (VEGFA) | ENSP00000484284.1:p.Ser178= | |
| ENST00000621747.4:c.534C>G (VEGFA) | ENSP00000483241.1:p.Ser178= | |
| NM_001025366.2:c.534C>G (VEGFA) | NP_001020537.2:p.Ser178= | |
| NM_001025367.2:c.534C>G (VEGFA) | NP_001020538.2:p.Ser178= | |
| NM_001025368.2:c.534C>G (VEGFA) | NP_001020539.2:p.Ser178= | |
| NM_001025369.2:c.534C>G (VEGFA) | NP_001020540.2:p.Ser178= | |
| NM_001025370.2:c.534C>G (VEGFA) | NP_001020541.2:p.Ser178= | |
| NM_001033756.2:c.534C>G (VEGFA) | NP_001028928.1:p.Ser178= | |
| NM_001171622.1:c.534C>G (VEGFA) | NP_001165093.1:p.Ser178= | |
| NM_001171623.1:c.-7C>G (VEGFA) | NP_001165094.1:n.-7C>G | |
| NM_001171624.1:c.-7C>G (VEGFA) | NP_001165095.1:n.-7C>G | |
| NM_001171625.1:c.-7C>G (VEGFA) | NP_001165096.1:n.-7C>G | |
| NM_001171626.1:c.-7C>G (VEGFA) | NP_001165097.1:n.-7C>G | |
| NM_001171627.1:c.-7C>G (VEGFA) | NP_001165098.1:n.-7C>G | |
| NM_001171628.1:c.-7C>G (VEGFA) | NP_001165099.1:n.-7C>G | |
| NM_001171629.1:c.-7C>G (VEGFA) | NP_001165100.1:n.-7C>G | |
| NM_001171630.1:c.-7C>G (VEGFA) | NP_001165101.1:n.-7C>G | |
| NM_001204384.1:c.-7C>G (VEGFA) | NP_001191313.1:n.-7C>G | |
| NM_001204385.1:c.534C>G (VEGFA) | NP_001191314.1:p.Ser178= | |
| NM_001317010.1:c.-7C>G (VEGFA) | NP_001303939.1:n.-7C>G | |
| NM_003376.5:c.534C>G (VEGFA) | NP_003367.4:p.Ser178= | |
| NM_001025366.3:c.534C>G (VEGFA) | NP_001020537.2:p.Ser178= | |
| NM_001025367.3:c.534C>G (VEGFA) | NP_001020538.2:p.Ser178= | |
| NM_001025368.3:c.534C>G (VEGFA) | NP_001020539.2:p.Ser178= | |
| NM_001025369.3:c.534C>G (VEGFA) | NP_001020540.2:p.Ser178= | |
| NM_001025370.3:c.534C>G (VEGFA) | NP_001020541.2:p.Ser178= | |
| NM_001033756.3:c.534C>G (VEGFA) | NP_001028928.1:p.Ser178= | |
| NM_001171622.2:c.534C>G (VEGFA) | NP_001165093.1:p.Ser178= | |
| NM_001204385.2:c.534C>G (VEGFA) | NP_001191314.1:p.Ser178= | |
| NM_003376.6:c.534C>G (VEGFA) MANE Select | NP_003367.4:p.Ser178= | |
| NM_001171623.2:c.-7C>G (VEGFA) | NP_001165094.1:n.-7C>G | |
| NM_001171624.2:c.-7C>G (VEGFA) | NP_001165095.1:n.-7C>G | |
| NM_001171625.2:c.-7C>G (VEGFA) | NP_001165096.1:n.-7C>G | |
| NM_001171626.2:c.-7C>G (VEGFA) | NP_001165097.1:n.-7C>G | |
| NM_001171627.2:c.-7C>G (VEGFA) | NP_001165098.1:n.-7C>G | |
| NM_001171628.2:c.-7C>G (VEGFA) | NP_001165099.1:n.-7C>G | |
| NM_001171629.2:c.-7C>G (VEGFA) | NP_001165100.1:n.-7C>G | |
| NM_001171630.2:c.-7C>G (VEGFA) | NP_001165101.1:n.-7C>G | |
| NM_001204384.2:c.-7C>G (VEGFA) | NP_001191313.1:n.-7C>G | |
| NM_001318876.2:c.945+241969C>G (POLR1C) | NP_001305805.1:n.945+241969C>G |