Linked Data
ClinVar Variation Id:
218
ClinVar RCV Id:
RCV000000242
dbSNP Id:
rs267606943
gnomAD v2:
19-33954912-G-A
gnomAD v4:
19-33464006-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33464006G>A , CM000681.2:g.33464006G>A | GRCh38 |
| NC_000019.9:g.33954912G>A , CM000681.1:g.33954912G>A | GRCh37 |
| NC_000019.8:g.38646752G>A | NCBI36 |
| NG_013358.1:g.62888C>T | |
| NG_013358.2:g.62888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.605C>T | ENSP00000468516.4:p.Ser202Phe | |
| ENST00000651646.2:c.605C>T | ENSP00000498950.2:p.Ser202Phe | |
| ENST00000651901.2:c.605C>T | ENSP00000498922.2:p.Ser202Phe | |
| ENST00000698359.1:c.560C>T | ENSP00000513682.1:p.Ser187Phe | |
| ENST00000698360.1:c.605C>T | ENSP00000513683.1:p.Ser202Phe | |
| ENST00000698361.1:c.605C>T | ENSP00000513684.1:p.Ser202Phe | |
| ENST00000698362.1:c.605C>T | ENSP00000513685.1:p.Ser202Phe | |
| ENST00000698363.1:n.668C>T | ||
| ENST00000698364.1:n.668C>T | ||
| ENST00000698365.1:n.668C>T | ||
| ENST00000698426.1:c.284C>T | ENSP00000513713.1:p.Ser95Phe | |
| ENST00000698427.1:c.647C>T | ENSP00000513714.1:p.Ser216Phe | |
| ENST00000698428.1:c.284C>T | ENSP00000513715.1:p.Ser95Phe | |
| ENST00000698430.1:c.855C>T | ||
| ENST00000698431.1:c.342C>T | ENSP00000513717.1:n.342C>T | |
| ENST00000698432.1:c.414C>T | ||
| ENST00000698435.1:c.293C>T | ENSP00000513719.1:p.Ser98Phe | |
| ENST00000698436.1:c.*217C>T | ENSP00000513720.1:n.*217C>T | |
| ENST00000698437.1:n.588C>T | ||
| ENST00000698438.1:n.587C>T | ||
| ENST00000698439.1:c.462C>T | ENSP00000513721.1:n.462C>T | |
| ENST00000244137.12:c.605C>T MANE Select | ENSP00000244137.5:p.Ser202Phe | |
| ENST00000588328.6:c.594C>T | ||
| ENST00000590731.6:n.280C>T | ||
| ENST00000651646.1:c.603C>T | ||
| ENST00000651901.1:c.601C>T | ||
| ENST00000244137.11:c.605C>T | ENSP00000244137.5:p.Ser202Phe | |
| ENST00000397032.8:c.548+14040C>T | ENSP00000380226.3:n.548+14040C>T | |
| ENST00000436370.7:c.413C>T | ENSP00000391890.2:p.Ser138Phe | |
| ENST00000588328.5:c.96C>T | ||
| ENST00000588719.5:n.240C>T | ||
| ENST00000590408.1:c.323C>T | ||
| ENST00000590731.5:n.280C>T | ||
| ENST00000590755.6:c.432C>T | ENSP00000476667.1:n.432C>T | |
| ENST00000593163.5:n.770C>T | ||
| ENST00000609145.5:c.38C>T | ENSP00000476514.1:p.Ser13Phe | |
| NM_000285.3:c.605C>T | NP_000276.2:p.Ser202Phe | |
| NM_001166056.1:c.548+14040C>T | NP_001159528.1:n.548+14040C>T | |
| NM_001166057.1:c.413C>T | NP_001159529.1:p.Ser138Phe | |
| NM_000285.4:c.605C>T MANE Select | NP_000276.2:p.Ser202Phe | |
| NM_001166056.2:c.548+14040C>T | NP_001159528.1:n.548+14040C>T | |
| NM_001166057.2:c.413C>T | NP_001159529.1:p.Ser138Phe |