Revel Score:
ENST00000264914 (MANE Select)
0.568
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002826 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002711 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78781974C>T , CM000667.2:g.78781974C>T | GRCh38 |
| NC_000005.9:g.78077797C>T , CM000667.1:g.78077797C>T | GRCh37 |
| NC_000005.8:g.78113553C>T | NCBI36 |
| NG_007089.1:g.209561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1214G>A MANE Select | ENSP00000264914.4:p.Cys405Tyr | |
| ENST00000264914.8:c.1214G>A | ENSP00000264914.4:p.Cys405Tyr | |
| ENST00000521011.1:n.179G>A | ||
| NM_000046.3:c.1214G>A | NP_000037.2:p.Cys405Tyr | |
| XM_011543390.1:c.1214G>A | XP_011541692.1:p.Cys405Tyr | |
| NM_000046.4:c.1214G>A | NP_000037.2:p.Cys405Tyr | |
| XR_001742066.2:n.1466G>A | ||
| NM_000046.5:c.1214G>A MANE Select | NP_000037.2:p.Cys405Tyr |