Linked Data
ClinVar Variation Id:
422076
dbSNP Id:
rs140389204
ExAC:
17:6607353 C / T
gnomAD v2:
17-6607353-C-T
gnomAD v3:
17-6704034-C-T
gnomAD v4:
17-6704034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6704034C>T , CM000679.2:g.6704034C>T | GRCh38 |
| NC_000017.10:g.6607353C>T , CM000679.1:g.6607353C>T | GRCh37 |
| NC_000017.9:g.6548077C>T | NCBI36 |
| NG_034220.1:g.14388G>A , LRG_1020:g.14388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.391G>A MANE Select | ENSP00000406220.2:p.Val131Ile | |
| ENST00000293800.10:c.369-29G>A | ENSP00000293800.6:n.369-29G>A | |
| ENST00000381074.8:c.262G>A | ENSP00000370464.4:p.Val88Ile | |
| ENST00000433363.6:c.391G>A | ENSP00000406220.2:p.Val131Ile | |
| ENST00000572094.1:c.*141G>A | ENSP00000461495.1:n.*141G>A | |
| ENST00000572352.5:c.280G>A | ENSP00000461622.1:p.Val94Ile | |
| ENST00000573648.5:c.391G>A | ENSP00000459372.1:p.Val131Ile | |
| ENST00000574824.5:n.1524G>A | ||
| ENST00000576323.1:n.421G>A | ||
| NM_001143838.2:c.391G>A | NP_001137310.1:p.Val131Ile | |
| NM_001284509.1:c.369-29G>A | NP_001271438.1:n.369-29G>A | |
| NM_001284510.1:c.262G>A | NP_001271439.1:p.Val88Ile | |
| NM_177550.4:c.391G>A , LRG_1020t1:c.391G>A | NP_808218.1:p.Val131Ile | |
| XM_006721504.2:c.280G>A | XP_006721567.1:p.Val94Ile | |
| XM_011523795.1:c.391G>A | XP_011522097.1:p.Val131Ile | |
| XM_011523795.3:c.391G>A | XP_011522097.1:p.Val131Ile | |
| NM_001143838.3:c.391G>A | NP_001137310.1:p.Val131Ile | |
| NM_001284509.2:c.369-29G>A | NP_001271438.1:n.369-29G>A | |
| NM_001284510.2:c.262G>A | NP_001271439.1:p.Val88Ile | |
| NM_177550.5:c.391G>A MANE Select | NP_808218.1:p.Val131Ile |