Linked Data
ClinVar Variation Id:
800629
ClinVar RCV Id:
RCV000984607
dbSNP Id:
rs1582306855
gnomAD v4:
6-32039821-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039821C>G , CM000668.2:g.32039821C>G | GRCh38 |
| NC_000006.11:g.32007598C>G , CM000668.1:g.32007598C>G | GRCh37 |
| NC_000006.10:g.32115577C>G | NCBI36 |
| NG_007941.2:g.6514C>G | |
| NG_008337.2:g.74554G>C | |
| NG_007941.3:g.6517C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.724C>G MANE Select | ENSP00000496625.1:p.Leu242Val | |
| ENST00000418967.6:c.724C>G | ENSP00000408860.2:p.Leu242Val | |
| ENST00000435122.3:c.634C>G | ENSP00000415043.2:p.Leu212Val | |
| ENST00000462278.1:n.413C>G | ||
| ENST00000466779.5:c.*416C>G | ENSP00000417321.1:n.*416C>G | |
| ENST00000466879.5:n.775C>G | ||
| ENST00000479074.5:n.782C>G | ||
| ENST00000479730.5:n.840C>G | ||
| ENST00000483041.5:n.893C>G | ||
| ENST00000486063.5:n.904C>G | ||
| NM_000500.7:c.724C>G | NP_000491.4:p.Leu242Val | |
| NM_001128590.3:c.634C>G | NP_001122062.3:p.Leu212Val | |
| XM_011514314.1:c.319C>G | XP_011512616.1:p.Leu107Val | |
| NM_000500.9:c.724C>G MANE Select | NP_000491.4:p.Leu242Val | |
| NM_001368143.1:c.319C>G | NP_001355072.1:p.Leu107Val | |
| NM_001368144.1:c.319C>G | NP_001355073.1:p.Leu107Val | |
| NM_001128590.4:c.634C>G | NP_001122062.3:p.Leu212Val | |
| NM_001368143.2:c.319C>G | NP_001355072.1:p.Leu107Val | |
| NM_001368144.2:c.319C>G | NP_001355073.1:p.Leu107Val |