Revel Score:
ENST00000397110
0.057
ENST00000337843 (MANE Select)
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65443645 (EAS)
Genomes Max Group AF
0.63380511 (EAS)
Exomes Max Group AF
0.65515486 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37185445C>A , CM000684.2:g.37185445C>A | GRCh38 |
| NC_000022.10:g.37581485C>A , CM000684.1:g.37581485C>A | GRCh37 |
| NC_000022.9:g.35911431C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337843.7:c.62G>T MANE Select | ENSP00000338812.2:p.Gly21Val | |
| ENST00000337843.6:c.62G>T | ENSP00000338812.2:p.Gly21Val | |
| ENST00000397110.6:c.62G>T | ENSP00000380299.2:p.Gly21Val | |
| ENST00000434784.1:c.62G>T | ENSP00000399243.1:p.Gly21Val | |
| ENST00000470655.5:n.3552G>T | ||
| ENST00000493023.1:n.504G>T | ||
| NM_031910.3:c.62G>T | NP_114116.3:p.Gly21Val | |
| NM_182486.1:c.62G>T | NP_872292.1:p.Gly21Val | |
| XM_006724125.2:c.5G>T | XP_006724188.1:p.Gly2Val | |
| XM_011529857.1:c.5G>T | XP_011528159.1:p.Gly2Val | |
| NM_001365878.1:c.5G>T | NP_001352807.1:p.Gly2Val | |
| XM_011529857.2:c.5G>T | XP_011528159.1:p.Gly2Val | |
| XM_017028569.1:c.62G>T | XP_016884058.1:p.Gly21Val | |
| XM_024452150.1:c.62G>T | XP_024307918.1:p.Gly21Val | |
| XM_024452151.1:c.62G>T | XP_024307919.1:p.Gly21Val | |
| XM_024452152.1:c.62G>T | XP_024307920.1:p.Gly21Val | |
| XM_024452153.1:c.62G>T | XP_024307921.1:p.Gly21Val | |
| XM_024452154.1:c.62G>T | XP_024307922.1:p.Gly21Val | |
| XM_024452155.1:c.5G>T | XP_024307923.1:p.Gly2Val | |
| NM_031910.4:c.62G>T MANE Select | NP_114116.3:p.Gly21Val | |
| NM_182486.2:c.62G>T | NP_872292.1:p.Gly21Val |