Revel Score:
ENST00000389857 (MANE Select)
0.056
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0015155 (AFR)
Genomes Max Group AF
0.00171663 (AFR)
Exomes Max Group AF
0.00105789 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91313423G>A , CM000676.2:g.91313423G>A | GRCh38 |
| NC_000014.8:g.91779767G>A , CM000676.1:g.91779767G>A | GRCh37 |
| NC_000014.7:g.90849520G>A | NCBI36 |
| NG_033118.1:g.109422C>T | |
| NG_033118.2:g.109422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.2393C>T MANE Select | ENSP00000374507.6:p.Ala798Val | |
| ENST00000389857.10:c.2393C>T | ENSP00000374507.6:p.Ala798Val | |
| NM_001080414.3:c.2393C>T | NP_001073883.2:p.Ala798Val | |
| XM_005267691.3:c.2393C>T | XP_005267748.1:p.Ala798Val | |
| XM_011536796.1:c.2285C>T | XP_011535098.1:p.Ala762Val | |
| XR_429316.2:n.2521C>T | ||
| XR_943459.1:n.2521C>T | ||
| XM_005267691.5:c.2393C>T | XP_005267748.1:p.Ala798Val | |
| XM_011536796.2:c.2285C>T | XP_011535098.1:p.Ala762Val | |
| XM_017021335.2:c.2393C>T | XP_016876824.1:p.Ala798Val | |
| XM_017021337.2:c.2393C>T | XP_016876826.1:p.Ala798Val | |
| XR_429316.4:n.2519C>T | ||
| NM_001080414.4:c.2393C>T MANE Select | NP_001073883.2:p.Ala798Val |