Revel Score:
ENST00000355773 (MANE Select)
0.053
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00569431 (AFR)
Genomes Max Group AF
0.00564847 (EAS)
Exomes Max Group AF
0.00563471 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600377C>T , CM000668.2:g.73600377C>T | GRCh38 |
| NC_000006.11:g.74310100C>T , CM000668.1:g.74310100C>T | GRCh37 |
| NC_000006.10:g.74366821C>T | NCBI36 |
| NG_008272.1:g.58638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1324G>A MANE Select | ENSP00000348019.5:p.Val442Ile | |
| ENST00000355773.5:c.1324G>A | ENSP00000348019.5:p.Val442Ile | |
| NM_012434.4:c.1324G>A | NP_036566.1:p.Val442Ile | |
| XM_005248710.2:c.1273G>A | XP_005248767.1:p.Val425Ile | |
| XM_005248711.1:c.1126G>A | XP_005248768.1:p.Val376Ile | |
| XM_011535750.1:c.1176G>A | XP_011534052.1:p.Pro392= | |
| NM_012434.5:c.1324G>A MANE Select | NP_036566.1:p.Val442Ile | |
| NM_001382629.1:c.1093G>A | NP_001369558.1:p.Val365Ile | |
| NM_001382630.1:c.1260-5163G>A | NP_001369559.1:n.1260-5163G>A | |
| NM_001382631.1:c.1345G>A | NP_001369560.1:p.Val449Ile | |
| NM_001382632.1:c.1237G>A | NP_001369561.1:p.Val413Ile | |
| NM_001382633.1:c.1324G>A | NP_001369562.1:p.Val442Ile | |
| NM_001382634.1:c.1165G>A | NP_001369563.1:p.Val389Ile | |
| NM_001382635.1:c.1321G>A | NP_001369564.1:p.Val441Ile | |
| NM_001382636.1:c.1006G>A | NP_001369565.1:p.Val336Ile |