COSMIC:
COSM4415005 (not active)
COSM4415006 (not active)
Revel Score:
ENST00000263817
0.261
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7199344 (EAS)
Genomes Max Group AF
0.69701393 (EAS)
Exomes Max Group AF
0.72083301 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168973818A>G , CM000664.2:g.168973818A>G | GRCh38 |
| NC_000002.11:g.169830328A>G , CM000664.1:g.169830328A>G | GRCh37 |
| NC_000002.10:g.169538574A>G | NCBI36 |
| NG_007374.1:g.62506T>C | |
| NG_007374.2:g.62579T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650372.1:c.1331T>C MANE Select | ENSP00000497931.1:p.Val444Ala | |
| ENST00000263817.6:c.1331T>C | ENSP00000263817.6:p.Val444Ala | |
| NM_003742.2:c.1331T>C | NP_003733.2:p.Val444Ala | |
| XM_006712817.2:c.1373T>C | XP_006712880.1:p.Val458Ala | |
| XM_011512077.1:c.1433T>C | XP_011510379.1:p.Val478Ala | |
| XM_011512078.1:c.1433T>C | XP_011510380.1:p.Val478Ala | |
| XM_011512079.1:c.1433T>C | XP_011510381.1:p.Val478Ala | |
| XM_011512080.1:c.1433T>C | XP_011510382.1:p.Val478Ala | |
| NM_003742.4:c.1331T>C MANE Select | NP_003733.2:p.Val444Ala | |
| XM_006712817.3:c.1373T>C | XP_006712880.1:p.Val458Ala | |
| XM_011512077.2:c.1433T>C | XP_011510379.1:p.Val478Ala | |
| XM_011512078.2:c.1433T>C | XP_011510380.1:p.Val478Ala | |
| XM_011512080.2:c.1433T>C | XP_011510382.1:p.Val478Ala | |
| XM_017005165.1:c.1433T>C | XP_016860654.1:p.Val478Ala | |
| XM_017005166.1:c.662T>C | XP_016860655.1:p.Val221Ala | |
| XM_017005167.1:c.116T>C | XP_016860656.1:p.Val39Ala |