Linked Data
ClinVar Variation Id:
17551
ClinVar RCV Id:
RCV000019106
dbSNP Id:
rs121912793
gnomAD v2:
2-175742739-A-C
gnomAD v3:
2-174878011-A-C
gnomAD v4:
2-174878011-A-C
PubMed:
PMID:18653847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174878011A>C , CM000664.2:g.174878011A>C | GRCh38 |
| NC_000002.11:g.175742739A>C , CM000664.1:g.175742739A>C | GRCh37 |
| NC_000002.10:g.175450985A>C | NCBI36 |
| NG_012642.1:g.132432T>G | |
| NG_012642.2:g.132432T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409900.9:c.378T>G MANE Select | ENSP00000386741.4:p.Ile126Met | |
| ENST00000425395.6:c.105-31054T>G | ENSP00000405270.2:n.105-31054T>G | |
| ENST00000444573.2:c.222T>G | ENSP00000392603.2:p.Ile74Met | |
| ENST00000451799.2:c.222T>G | ENSP00000416316.2:p.Ile74Met | |
| ENST00000469597.2:c.*26T>G | ENSP00000498417.1:n.*26T>G | |
| ENST00000488080.6:n.115-2146T>G | ||
| ENST00000650734.1:c.*278T>G | ENSP00000498742.1:n.*278T>G | |
| ENST00000650770.1:c.*292T>G | ENSP00000499036.1:n.*292T>G | |
| ENST00000651063.1:n.429T>G | ||
| ENST00000651246.1:c.-31T>G | ENSP00000498484.1:n.-31T>G | |
| ENST00000651315.1:c.-31T>G | ENSP00000498692.1:n.-31T>G | |
| ENST00000651373.1:c.-31T>G | ENSP00000499174.1:n.-31T>G | |
| ENST00000651501.1:c.105-31054T>G | ENSP00000498894.1:n.105-31054T>G | |
| ENST00000651580.1:c.222T>G | ENSP00000498631.1:p.Ile74Met | |
| ENST00000651599.1:c.222T>G | ENSP00000498535.1:p.Ile74Met | |
| ENST00000651803.1:c.*292T>G | ENSP00000499007.1:n.*292T>G | |
| ENST00000651971.1:c.*178T>G | ENSP00000499035.1:n.*178T>G | |
| ENST00000652154.1:n.354T>G | ||
| ENST00000652208.1:c.222T>G | ENSP00000498475.1:p.Ile74Met | |
| ENST00000652434.1:c.339T>G | ENSP00000498549.1:p.Ile113Met | |
| ENST00000652437.1:n.521T>G | ||
| ENST00000652674.1:c.-31T>G | ENSP00000498599.1:n.-31T>G | |
| ENST00000652734.1:n.275T>G | ||
| ENST00000652756.1:c.222T>G | ENSP00000498281.1:p.Ile74Met | |
| ENST00000652768.1:n.270T>G | ||
| ENST00000409156.7:c.378T>G | ENSP00000386470.3:p.Ile126Met | |
| ENST00000409900.7:c.378T>G | ENSP00000386741.3:p.Ile126Met | |
| ENST00000425395.5:c.*101-31054T>G | ENSP00000405270.1:n.*101-31054T>G | |
| ENST00000469597.1:n.483T>G | ||
| ENST00000488080.5:n.401-31054T>G | ||
| ENST00000490654.1:n.353T>G | ||
| NM_001025201.3:c.378T>G | NP_001020372.2:p.Ile126Met | |
| NM_001822.5:c.378T>G | NP_001813.1:p.Ile126Met | |
| NR_038133.1:n.416-31054T>G | ||
| NM_001025201.4:c.378T>G | NP_001020372.2:p.Ile126Met | |
| NM_001371513.1:c.378T>G | NP_001358442.1:p.Ile126Met | |
| NM_001371514.1:c.429T>G | NP_001358443.1:p.Ile143Met | |
| NM_001822.7:c.378T>G MANE Select | NP_001813.1:p.Ile126Met | |
| NR_038133.2:n.418-31054T>G |