Linked Data
ClinVar Variation Id:
800926
dbSNP Id:
rs770199817
ExAC:
6:32007893 A / G
gnomAD v2:
6-32007893-A-G
gnomAD v3:
6-32040116-A-G
gnomAD v4:
6-32040116-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040116A>G , CM000668.2:g.32040116A>G | GRCh38 |
| NC_000006.11:g.32007893A>G , CM000668.1:g.32007893A>G | GRCh37 |
| NC_000006.10:g.32115872A>G | NCBI36 |
| NG_007941.2:g.6809A>G | |
| NG_008337.2:g.74259T>C | |
| NG_007941.3:g.6812A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.850A>G MANE Select | ENSP00000496625.1:p.Met284Val | |
| ENST00000418967.6:c.850A>G | ENSP00000408860.2:p.Met284Val | |
| ENST00000435122.3:c.760A>G | ENSP00000415043.2:p.Met254Val | |
| ENST00000479074.5:n.908A>G | ||
| ENST00000479730.5:n.966A>G | ||
| ENST00000483041.5:n.1019A>G | ||
| ENST00000486063.5:n.918+281A>G | ||
| NM_000500.7:c.850A>G | NP_000491.4:p.Met284Val | |
| NM_001128590.3:c.760A>G | NP_001122062.3:p.Met254Val | |
| XM_011514314.1:c.445A>G | XP_011512616.1:p.Met149Val | |
| NM_000500.9:c.850A>G MANE Select | NP_000491.4:p.Met284Val | |
| NM_001368143.1:c.445A>G | NP_001355072.1:p.Met149Val | |
| NM_001368144.1:c.445A>G | NP_001355073.1:p.Met149Val | |
| NM_001128590.4:c.760A>G | NP_001122062.3:p.Met254Val | |
| NM_001368143.2:c.445A>G | NP_001355072.1:p.Met149Val | |
| NM_001368144.2:c.445A>G | NP_001355073.1:p.Met149Val |