Linked Data
ClinVar Variation Id:
3102111
ClinVar RCV Id:
RCV004393520
dbSNP Id:
rs531824867
ExAC:
19:1105691 C / T
gnomAD v2:
19-1105691-C-T
gnomAD v3:
19-1105692-C-T
gnomAD v4:
19-1105692-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1105692C>T , CM000681.2:g.1105692C>T | GRCh38 |
| NC_000019.9:g.1105691C>T , CM000681.1:g.1105691C>T | GRCh37 |
| NC_000019.8:g.1056691C>T | NCBI36 |
| NG_050621.1:g.6767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.470C>T | ENSP00000473614.3:p.Ala157Val | |
| ENST00000593032.6:c.278C>T | ENSP00000465828.4:p.Ala93Val | |
| ENST00000706713.1:c.353C>T | ENSP00000516510.1:p.Ala118Val | |
| ENST00000706714.1:c.278C>T | ENSP00000516511.1:p.Ala93Val | |
| ENST00000706715.1:c.-26C>T | ENSP00000516512.1:n.-26C>T | |
| ENST00000354171.13:c.359C>T MANE Select | ENSP00000346103.7:p.Ala120Val | |
| ENST00000589115.6:c.359C>T | ENSP00000466872.3:p.Ala120Val | |
| ENST00000354171.12:c.359C>T | ENSP00000346103.7:p.Ala120Val | |
| ENST00000585362.6:c.470C>T | ENSP00000473614.2:p.Ala157Val | |
| ENST00000585480.1:c.92C>T | ENSP00000467900.1:p.Ala31Val | |
| ENST00000587648.5:c.239C>T | ENSP00000468349.1:p.Ala80Val | |
| ENST00000588919.5:c.278C>T | ENSP00000464989.3:p.Ala93Val | |
| ENST00000589115.5:c.359C>T | ENSP00000466872.2:p.Ala120Val | |
| ENST00000592940.2:n.298C>T | ||
| ENST00000593032.5:c.278C>T | ENSP00000465828.3:p.Ala93Val | |
| ENST00000611653.4:c.278C>T | ENSP00000483655.1:p.Ala93Val | |
| ENST00000616066.4:c.356C>T | ENSP00000485000.1:p.Ala119Val | |
| ENST00000622390.4:c.467C>T | ENSP00000477503.1:p.Ala156Val | |
| NM_001039847.2:c.359C>T | NP_001034936.1:p.Ala120Val | |
| NM_001039848.2:c.470C>T | NP_001034937.1:p.Ala157Val | |
| NM_002085.4:c.359C>T | NP_002076.2:p.Ala120Val | |
| NM_001039848.3:c.470C>T | NP_001034937.1:p.Ala157Val | |
| NM_001039847.3:c.359C>T | NP_001034936.1:p.Ala120Val | |
| NM_001039848.4:c.470C>T | NP_001034937.1:p.Ala157Val | |
| NM_001367832.1:c.278C>T | NP_001354761.1:p.Ala93Val | |
| NM_002085.5:c.359C>T MANE Select | NP_002076.2:p.Ala120Val |