Linked Data
ClinVar Variation Id:
225879
dbSNP Id:
rs751163782
ExAC:
4:13371512 A / C
gnomAD v2:
4-13371512-A-C
gnomAD v3:
4-13369888-A-C
gnomAD v4:
4-13369888-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.13369888A>C , CM000666.2:g.13369888A>C | GRCh38 |
| NC_000004.11:g.13371512A>C , CM000666.1:g.13371512A>C | GRCh37 |
| NC_000004.10:g.12980610A>C | NCBI36 |
| NG_033891.1:g.119478T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288723.9:c.651T>G MANE Plus Clinical | ENSP00000288723.4:p.Cys217Trp | |
| ENST00000330852.10:c.574-1238T>G MANE Select | ENSP00000328551.5:n.574-1238T>G | |
| ENST00000288723.8:c.651T>G | ENSP00000288723.4:p.Cys217Trp | |
| ENST00000330852.9:c.574-1238T>G | ENSP00000328551.5:n.574-1238T>G | |
| ENST00000338176.8:c.*32-1238T>G | ENSP00000340079.4:n.*32-1238T>G | |
| ENST00000504644.1:c.256-1238T>G | ||
| ENST00000508274.5:c.*156-1238T>G | ENSP00000424043.1:n.*156-1238T>G | |
| ENST00000511649.5:c.418T>G | ||
| ENST00000630951.1:c.*233T>G | ENSP00000485808.1:n.*233T>G | |
| NM_001017979.2:c.574-1238T>G | NP_001017979.1:n.574-1238T>G | |
| NM_001159601.1:c.*32-1238T>G | NP_001153073.1:n.*32-1238T>G | |
| NM_004249.3:c.651T>G | NP_004240.2:p.Cys217Trp | |
| XM_011513911.1:c.573+6657T>G | XP_011512213.1:n.573+6657T>G | |
| XM_011513912.1:c.343-1238T>G | XP_011512214.1:n.343-1238T>G | |
| XR_925360.1:n.788+6657T>G | ||
| XR_925361.1:n.788+6657T>G | ||
| NM_001017979.3:c.574-1238T>G MANE Select | NP_001017979.1:n.574-1238T>G | |
| NM_004249.4:c.651T>G MANE Plus Clinical | NP_004240.2:p.Cys217Trp | |
| NM_001159601.2:c.*32-1238T>G | NP_001153073.1:n.*32-1238T>G |