Linked Data
ClinVar Variation Id:
328820
dbSNP Id:
rs760506591
ExAC:
19:33984210 C / T
gnomAD v2:
19-33984210-C-T
gnomAD v3:
19-33493304-C-T
gnomAD v4:
19-33493304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33493304C>T , CM000681.2:g.33493304C>T | GRCh38 |
| NC_000019.9:g.33984210C>T , CM000681.1:g.33984210C>T | GRCh37 |
| NC_000019.8:g.38676050C>T | NCBI36 |
| NG_013358.1:g.33590G>A | |
| NG_013358.2:g.33590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.427G>A | ENSP00000468516.4:p.Val143Ile | |
| ENST00000651646.2:c.427G>A | ENSP00000498950.2:p.Val143Ile | |
| ENST00000651901.2:c.427G>A | ENSP00000498922.2:p.Val143Ile | |
| ENST00000698359.1:c.427G>A | ENSP00000513682.1:p.Val143Ile | |
| ENST00000698360.1:c.427G>A | ENSP00000513683.1:p.Val143Ile | |
| ENST00000698361.1:c.427G>A | ENSP00000513684.1:p.Val143Ile | |
| ENST00000698362.1:c.427G>A | ENSP00000513685.1:p.Val143Ile | |
| ENST00000698363.1:n.490G>A | ||
| ENST00000698364.1:n.490G>A | ||
| ENST00000698365.1:n.490G>A | ||
| ENST00000698426.1:c.106G>A | ENSP00000513713.1:p.Val36Ile | |
| ENST00000698427.1:c.469G>A | ENSP00000513714.1:p.Val157Ile | |
| ENST00000698428.1:c.106G>A | ENSP00000513715.1:p.Val36Ile | |
| ENST00000698430.1:c.677G>A | ||
| ENST00000698431.1:c.226G>A | ENSP00000513717.1:p.Val76Ile | |
| ENST00000698432.1:c.313-15214G>A | ||
| ENST00000698435.1:c.115G>A | ENSP00000513719.1:p.Val39Ile | |
| ENST00000698436.1:c.*39G>A | ENSP00000513720.1:n.*39G>A | |
| ENST00000698437.1:n.410G>A | ||
| ENST00000698438.1:n.409G>A | ||
| ENST00000698439.1:c.360+7634G>A | ENSP00000513721.1:n.360+7634G>A | |
| ENST00000244137.12:c.427G>A MANE Select | ENSP00000244137.5:p.Val143Ile | |
| ENST00000588328.6:c.416G>A | ||
| ENST00000651646.1:c.425G>A | ||
| ENST00000651901.1:c.423G>A | ||
| ENST00000244137.11:c.427G>A | ENSP00000244137.5:p.Val143Ile | |
| ENST00000397032.8:c.427G>A | ENSP00000380226.3:p.Val143Ile | |
| ENST00000436370.7:c.235G>A | ENSP00000391890.2:p.Val79Ile | |
| ENST00000590408.1:c.145G>A | ||
| ENST00000590755.6:c.34G>A | ENSP00000476667.1:p.Val12Ile | |
| ENST00000593163.5:n.592G>A | ||
| ENST00000609145.5:c.-141G>A | ENSP00000476514.1:n.-141G>A | |
| NM_000285.3:c.427G>A | NP_000276.2:p.Val143Ile | |
| NM_001166056.1:c.427G>A | NP_001159528.1:p.Val143Ile | |
| NM_001166057.1:c.235G>A | NP_001159529.1:p.Val79Ile | |
| NM_000285.4:c.427G>A MANE Select | NP_000276.2:p.Val143Ile | |
| NM_001166056.2:c.427G>A | NP_001159528.1:p.Val143Ile | |
| NM_001166057.2:c.235G>A | NP_001159529.1:p.Val79Ile |