Linked Data
ClinVar Variation Id:
295808
dbSNP Id:
rs368431013
ExAC:
1:22179257 C / G
gnomAD v2:
1-22179257-C-G
gnomAD v3:
1-21852764-C-G
gnomAD v4:
1-21852764-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21852764C>G , CM000663.2:g.21852764C>G | GRCh38 |
| NC_000001.10:g.22179257C>G , CM000663.1:g.22179257C>G | GRCh37 |
| NC_000001.9:g.22051844C>G | NCBI36 |
| NG_016740.1:g.89494G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.6660G>C MANE Select | ENSP00000363827.3:p.Val2220= | |
| ENST00000374695.7:c.6660G>C | ENSP00000363827.3:p.Val2220= | |
| ENST00000493940.2:n.304+200G>C | ||
| NM_001291860.1:c.6663G>C | NP_001278789.1:p.Val2221= | |
| NM_005529.6:c.6660G>C | NP_005520.4:p.Val2220= | |
| XM_006710594.2:c.7206G>C | XP_006710657.1:p.Val2402= | |
| XM_006710595.2:c.7158G>C | XP_006710658.1:p.Val2386= | |
| XM_006710596.2:c.7137G>C | XP_006710659.1:p.Val2379= | |
| XM_006710597.2:c.6660G>C | XP_006710660.1:p.Val2220= | |
| XM_011541317.1:c.7209G>C | XP_011539619.1:p.Val2403= | |
| XM_011541318.1:c.7209G>C | XP_011539620.1:p.Val2403= | |
| XM_011541319.1:c.7209G>C | XP_011539621.1:p.Val2403= | |
| XM_011541320.1:c.7140+155G>C | XP_011539622.1:n.7140+155G>C | |
| XM_011541321.1:c.6714G>C | XP_011539623.1:p.Val2238= | |
| XM_011541322.1:c.7209G>C | XP_011539624.1:p.Val2403= | |
| XM_011541318.2:c.7209G>C | XP_011539620.1:p.Val2403= | |
| XM_017001120.1:c.6855G>C | XP_016856609.1:p.Val2285= | |
| XM_017001121.1:c.6804G>C | XP_016856610.1:p.Val2268= | |
| XM_017001122.1:c.6801G>C | XP_016856611.1:p.Val2267= | |
| NM_005529.7:c.6660G>C MANE Select | NP_005520.4:p.Val2220= | |
| NM_001291860.2:c.6663G>C | NP_001278789.1:p.Val2221= |