Linked Data
ClinVar Variation Id:
189310
ClinVar RCV Id:
RCV000169730
RCV000676884
RCV000764399
RCV000990458
RCV002292437
RCV004535151
RCV003987393
dbSNP Id:
rs141772938
ExAC:
22:41903841 C / G
gnomAD v2:
22-41903841-C-G
gnomAD v3:
22-41507837-C-G
gnomAD v4:
22-41507837-C-G
PubMed:
PMID:25351951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41507837C>G , CM000684.2:g.41507837C>G | GRCh38 |
| NC_000022.10:g.41903841C>G , CM000684.1:g.41903841C>G | GRCh37 |
| NC_000022.9:g.40233787C>G | NCBI36 |
| NG_032143.1:g.43713C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216254.9:c.220C>G MANE Select | ENSP00000216254.4:p.Leu74Val | |
| ENST00000466237.2:c.220C>G | ENSP00000504719.1:p.Leu74Val | |
| ENST00000676664.1:c.166C>G | ENSP00000503709.1:p.Leu56Val | |
| ENST00000676714.1:c.*138C>G | ENSP00000504699.1:n.*138C>G | |
| ENST00000676748.1:c.121C>G | ENSP00000503371.1:p.Leu41Val | |
| ENST00000676792.1:c.55C>G | ENSP00000503590.1:p.Leu19Val | |
| ENST00000676822.1:n.468C>G | ||
| ENST00000676959.1:c.220C>G | ENSP00000504377.1:p.Leu74Val | |
| ENST00000677007.1:c.220C>G | ENSP00000504634.1:p.Leu74Val | |
| ENST00000677153.1:c.121C>G | ENSP00000504453.1:p.Leu41Val | |
| ENST00000677427.1:n.250C>G | ||
| ENST00000677516.1:c.220C>G | ENSP00000503370.1:p.Leu74Val | |
| ENST00000677532.1:c.244C>G | ENSP00000503471.1:p.Leu82Val | |
| ENST00000677554.1:c.220C>G | ENSP00000504513.1:p.Leu74Val | |
| ENST00000677698.1:c.593C>G | ||
| ENST00000678269.1:c.220C>G | ENSP00000504150.1:p.Leu74Val | |
| ENST00000678394.1:n.397C>G | ||
| ENST00000678454.1:n.250C>G | ||
| ENST00000678600.1:n.261C>G | ||
| ENST00000678688.1:c.220C>G | ENSP00000503990.1:p.Leu74Val | |
| ENST00000678788.1:c.220C>G | ENSP00000504684.1:p.Leu74Val | |
| ENST00000678819.1:c.*83C>G | ENSP00000503199.1:n.*83C>G | |
| ENST00000679264.1:n.249C>G | ||
| ENST00000679311.1:n.250C>G | ||
| ENST00000679320.1:c.220C>G | ENSP00000504780.1:p.Leu74Val | |
| ENST00000216254.8:c.220C>G | ENSP00000216254.4:p.Leu74Val | |
| ENST00000396512.3:c.220C>G | ENSP00000379769.3:p.Leu74Val | |
| ENST00000471094.1:n.396C>G | ||
| NM_001098.2:c.220C>G | NP_001089.1:p.Leu74Val | |
| XM_017028812.1:c.121C>G | XP_016884301.1:p.Leu41Val | |
| XM_024452250.1:c.220C>G | XP_024308018.1:p.Leu74Val | |
| NM_001098.3:c.220C>G MANE Select | NP_001089.1:p.Leu74Val |