Linked Data
ClinVar Variation Id:
159589
dbSNP Id:
rs7279204
ExAC:
21:47808679 C / T
gnomAD v2:
21-47808679-C-T
gnomAD v3:
21-46388764-C-T
gnomAD v4:
21-46388764-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46388764C>T , CM000683.2:g.46388764C>T | GRCh38 |
| NC_000021.8:g.47808679C>T , CM000683.1:g.47808679C>T | GRCh37 |
| NC_000021.7:g.46633107C>T | NCBI36 |
| NG_008961.1:g.69644C>T | |
| NG_008961.2:g.69643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*1983C>T | ENSP00000511987.1:n.*1983C>T | |
| ENST00000695525.1:n.3573C>T | ||
| ENST00000695558.1:c.3487C>T | ENSP00000512015.1:p.Arg1163Cys | |
| ENST00000703224.1:c.*2730C>T | ENSP00000515242.1:n.*2730C>T | |
| ENST00000359568.10:c.3487C>T MANE Select | ENSP00000352572.5:p.Arg1163Cys | |
| ENST00000359568.9:c.3487C>T | ENSP00000352572.5:p.Arg1163Cys | |
| ENST00000480896.5:n.3756C>T | ||
| NM_001315529.1:c.3133C>T | NP_001302458.1:p.Arg1045Cys | |
| NM_006031.5:c.3487C>T | NP_006022.3:p.Arg1163Cys | |
| XM_005261124.3:c.3487C>T | XP_005261181.1:p.Arg1163Cys | |
| XM_011529593.1:c.3568C>T | XP_011527895.1:p.Arg1190Cys | |
| XM_011529594.1:c.3568C>T | XP_011527896.1:p.Arg1190Cys | |
| XM_005261124.5:c.3487C>T | XP_005261181.1:p.Arg1163Cys | |
| XM_011529594.3:c.3568C>T | XP_011527896.1:p.Arg1190Cys | |
| XM_017028362.2:c.3487C>T | XP_016883851.1:p.Arg1163Cys | |
| XM_017028363.1:c.3133C>T | XP_016883852.1:p.Arg1045Cys | |
| XM_024452082.1:c.2371C>T | XP_024307850.1:p.Arg791Cys | |
| XM_024452083.1:c.1267C>T | XP_024307851.1:p.Arg423Cys | |
| NM_006031.6:c.3487C>T MANE Select | NP_006022.3:p.Arg1163Cys | |
| NM_001315529.2:c.3133C>T | NP_001302458.1:p.Arg1045Cys |