Revel Score:
ENST00000407775 (MANE Select)
0.329
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00505647 (NFE)
Genomes Max Group AF
0.00484307 (NFE)
Exomes Max Group AF
0.00504483 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105419192A>G , CM000670.2:g.105419192A>G | GRCh38 |
| NC_000008.10:g.106431420A>G , CM000670.1:g.106431420A>G | GRCh37 |
| NC_000008.9:g.106500596A>G | NCBI36 |
| NG_011723.1:g.105274A>G | |
| NG_011723.2:g.105274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.89A>G MANE Select | ENSP00000384179.2:p.Glu30Gly | |
| ENST00000407775.6:c.89A>G | ENSP00000384179.2:p.Glu30Gly | |
| ENST00000511341.6:n.829A>G | ||
| ENST00000518180.1:n.528A>G | ||
| ENST00000520027.5:c.-308A>G | ENSP00000428149.1:n.-308A>G | |
| ENST00000520492.5:c.-308A>G | ENSP00000430757.1:n.-308A>G | |
| ENST00000522160.1:n.49A>G | ||
| ENST00000524235.5:n.302A>G | ||
| NM_012082.3:c.89A>G | NP_036214.2:p.Glu30Gly | |
| XM_011516946.1:c.128A>G | XP_011515248.1:p.Glu43Gly | |
| XM_011516947.1:c.59A>G | XP_011515249.1:p.Glu20Gly | |
| XM_011516948.1:c.41-25088A>G | XP_011515250.1:n.41-25088A>G | |
| XM_011516949.1:c.128A>G | XP_011515251.1:p.Glu43Gly | |
| NM_001362836.1:c.41-25088A>G | NP_001349765.1:n.41-25088A>G | |
| NM_001362837.1:c.-308A>G | NP_001349766.1:n.-308A>G | |
| XM_011516947.3:c.59A>G | XP_011515249.1:p.Glu20Gly | |
| NM_012082.4:c.89A>G MANE Select | NP_036214.2:p.Glu30Gly | |
| NM_001362836.2:c.41-25088A>G | NP_001349765.1:n.41-25088A>G | |
| NM_001362837.2:c.-308A>G | NP_001349766.1:n.-308A>G |