gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5025048 (NFE)
Genomes Max Group AF
0.50251953 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176689730T>G , CM000666.2:g.176689730T>G | GRCh38 |
| NC_000004.11:g.177610884T>G , CM000666.1:g.177610884T>G | GRCh37 |
| NC_000004.10:g.177847878T>G | NCBI36 |
| NG_034216.1:g.108016A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618562.2:c.705-1803A>C (VEGFC) MANE Select | ENSP00000480043.1:n.705-1803A>C | |
| ENST00000507638.1:n.404-75A>C (VEGFC) | ||
| ENST00000618562.1:c.705-1803A>C (VEGFC) | ENSP00000480043.1:n.705-1803A>C | |
| NM_005429.4:c.705-1803A>C (VEGFC) | NP_005420.1:n.705-1803A>C | |
| XR_939498.1:n.260+9980T>G (HAFML) | ||
| XR_939499.1:n.210-16173T>G (HAFML) | ||
| XR_939498.2:n.347+9980T>G (HAFML) | ||
| XR_939499.2:n.293-16173T>G (HAFML) | ||
| NM_005429.5:c.705-1803A>C (VEGFC) MANE Select | NP_005420.1:n.705-1803A>C |