Linked Data
ClinVar Variation Id:
12223
ClinVar RCV Id:
RCV001618210
dbSNP Id:
rs2010963
gnomAD v2:
6-43738350-C-G
gnomAD v3:
6-43770613-C-G
gnomAD v4:
6-43770613-C-G
PubMed:
PMID:11978667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43770613C>G , CM000668.2:g.43770613C>G | GRCh38 |
| NC_000006.11:g.43738350C>G , CM000668.1:g.43738350C>G | GRCh37 |
| NC_000006.10:g.43846328C>G | NCBI36 |
| NG_008732.1:g.5398C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425836.9:c.-94C>G (VEGFA) | ENSP00000388465.4:n.-94C>G | |
| ENST00000425836.8:c.-94C>G (VEGFA) | ENSP00000388465.4:n.-94C>G | |
| ENST00000672860.3:c.-94C>G (VEGFA) MANE Select | ENSP00000500082.3:n.-94C>G | |
| ENST00000372067.8:c.-94C>G (VEGFA) | ENSP00000361137.4:n.-94C>G | |
| ENST00000672860.2:c.-94C>G (VEGFA) | ENSP00000500082.2:n.-94C>G | |
| ENST00000372067.7:c.-94C>G (VEGFA) | ENSP00000361137.3:n.-94C>G | |
| ENST00000476772.5:n.430C>G (VEGFA) | ||
| ENST00000611736.4:c.-94C>G (VEGFA) | ENSP00000478570.1:n.-94C>G | |
| ENST00000615393.4:c.-94C>G (VEGFA) | ENSP00000478034.1:n.-94C>G | |
| ENST00000617771.4:c.-94C>G (VEGFA) | ENSP00000484284.1:n.-94C>G | |
| ENST00000621747.4:c.-94C>G (VEGFA) | ENSP00000483241.1:n.-94C>G | |
| NM_001025366.2:c.-94C>G (VEGFA) | NP_001020537.2:n.-94C>G | |
| NM_001025367.2:c.-94C>G (VEGFA) | NP_001020538.2:n.-94C>G | |
| NM_001025368.2:c.-94C>G (VEGFA) | NP_001020539.2:n.-94C>G | |
| NM_001025369.2:c.-94C>G (VEGFA) | NP_001020540.2:n.-94C>G | |
| NM_001025370.2:c.-94C>G (VEGFA) | NP_001020541.2:n.-94C>G | |
| NM_001033756.2:c.-94C>G (VEGFA) | NP_001028928.1:n.-94C>G | |
| NM_001171622.1:c.-94C>G (VEGFA) | NP_001165093.1:n.-94C>G | |
| NM_001171623.1:c.-634C>G (VEGFA) | NP_001165094.1:n.-634C>G | |
| NM_001171624.1:c.-634C>G (VEGFA) | NP_001165095.1:n.-634C>G | |
| NM_001171625.1:c.-634C>G (VEGFA) | NP_001165096.1:n.-634C>G | |
| NM_001171626.1:c.-634C>G (VEGFA) | NP_001165097.1:n.-634C>G | |
| NM_001171627.1:c.-634C>G (VEGFA) | NP_001165098.1:n.-634C>G | |
| NM_001171628.1:c.-634C>G (VEGFA) | NP_001165099.1:n.-634C>G | |
| NM_001171629.1:c.-634C>G (VEGFA) | NP_001165100.1:n.-634C>G | |
| NM_001171630.1:c.-634C>G (VEGFA) | NP_001165101.1:n.-634C>G | |
| NM_001204384.1:c.-634C>G (VEGFA) | NP_001191313.1:n.-634C>G | |
| NM_001204385.1:c.-94C>G (VEGFA) | NP_001191314.1:n.-94C>G | |
| NM_001317010.1:c.-634C>G (VEGFA) | NP_001303939.1:n.-634C>G | |
| NM_003376.5:c.-94C>G (VEGFA) | NP_003367.4:n.-94C>G | |
| NM_001025366.3:c.-94C>G (VEGFA) | NP_001020537.2:n.-94C>G | |
| NM_001025367.3:c.-94C>G (VEGFA) | NP_001020538.2:n.-94C>G | |
| NM_001025368.3:c.-94C>G (VEGFA) | NP_001020539.2:n.-94C>G | |
| NM_001025369.3:c.-94C>G (VEGFA) | NP_001020540.2:n.-94C>G | |
| NM_001025370.3:c.-94C>G (VEGFA) | NP_001020541.2:n.-94C>G | |
| NM_001033756.3:c.-94C>G (VEGFA) | NP_001028928.1:n.-94C>G | |
| NM_001171622.2:c.-94C>G (VEGFA) | NP_001165093.1:n.-94C>G | |
| NM_001204385.2:c.-94C>G (VEGFA) | NP_001191314.1:n.-94C>G | |
| NM_003376.6:c.-94C>G (VEGFA) MANE Select | NP_003367.4:n.-94C>G | |
| NM_001171623.2:c.-634C>G (VEGFA) | NP_001165094.1:n.-634C>G | |
| NM_001171624.2:c.-634C>G (VEGFA) | NP_001165095.1:n.-634C>G | |
| NM_001171625.2:c.-634C>G (VEGFA) | NP_001165096.1:n.-634C>G | |
| NM_001171626.2:c.-634C>G (VEGFA) | NP_001165097.1:n.-634C>G | |
| NM_001171627.2:c.-634C>G (VEGFA) | NP_001165098.1:n.-634C>G | |
| NM_001171628.2:c.-634C>G (VEGFA) | NP_001165099.1:n.-634C>G | |
| NM_001171629.2:c.-634C>G (VEGFA) | NP_001165100.1:n.-634C>G | |
| NM_001171630.2:c.-634C>G (VEGFA) | NP_001165101.1:n.-634C>G | |
| NM_001204384.2:c.-634C>G (VEGFA) | NP_001191313.1:n.-634C>G | |
| NM_001318876.2:c.945+241342C>G (POLR1C) | NP_001305805.1:n.945+241342C>G |