Revel Score:
ENST00000418967
0.311
ENST00000435122
0.311
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01725703 (AMR)
Genomes Max Group AF
0.02545027 (AMR)
Exomes Max Group AF
0.01399604 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040110G>T , CM000668.2:g.32040110G>T | GRCh38 |
| NC_000006.11:g.32007887G>T , CM000668.1:g.32007887G>T | GRCh37 |
| NC_000006.10:g.32115866G>T | NCBI36 |
| NG_007941.2:g.6803G>T | |
| NG_008337.2:g.74265C>A | |
| NG_007941.3:g.6806G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.844G>T MANE Select | ENSP00000496625.1:p.Val282Leu | |
| ENST00000418967.6:c.844G>T | ENSP00000408860.2:p.Val282Leu | |
| ENST00000435122.3:c.754G>T | ENSP00000415043.2:p.Val252Leu | |
| ENST00000479074.5:n.902G>T | ||
| ENST00000479730.5:n.960G>T | ||
| ENST00000483041.5:n.1013G>T | ||
| ENST00000486063.5:n.918+275G>T | ||
| NM_000500.7:c.844G>T | NP_000491.4:p.Val282Leu | |
| NM_001128590.3:c.754G>T | NP_001122062.3:p.Val252Leu | |
| XM_011514314.1:c.439G>T | XP_011512616.1:p.Val147Leu | |
| NM_000500.9:c.844G>T MANE Select | NP_000491.4:p.Val282Leu | |
| NM_001368143.1:c.439G>T | NP_001355072.1:p.Val147Leu | |
| NM_001368144.1:c.439G>T | NP_001355073.1:p.Val147Leu | |
| NM_001128590.4:c.754G>T | NP_001122062.3:p.Val252Leu | |
| NM_001368143.2:c.439G>T | NP_001355072.1:p.Val147Leu | |
| NM_001368144.2:c.439G>T | NP_001355073.1:p.Val147Leu |