Linked Data
ClinVar Variation Id:
440391
dbSNP Id:
rs151095402
ExAC:
12:109536366 C / T
gnomAD v2:
12-109536366-C-T
gnomAD v3:
12-109098561-C-T
gnomAD v4:
12-109098561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109098561C>T , CM000674.2:g.109098561C>T | GRCh38 |
| NC_000012.11:g.109536366C>T , CM000674.1:g.109536366C>T | GRCh37 |
| NC_000012.10:g.108020749C>T | NCBI36 |
| NG_007284.1:g.5952C>T , LRG_124:g.5952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539287.6:c.235C>T | ENSP00000440784.1:p.Arg79Cys | |
| ENST00000699559.1:c.235C>T | ENSP00000514433.1:p.Arg79Cys | |
| ENST00000699560.1:c.235C>T | ENSP00000514434.1:p.Arg79Cys | |
| ENST00000699561.1:c.235C>T | ENSP00000514435.1:p.Arg79Cys | |
| ENST00000699562.1:c.235C>T | ENSP00000514436.1:p.Arg79Cys | |
| ENST00000699563.1:c.235C>T | ENSP00000514437.1:p.Arg79Cys | |
| ENST00000699564.1:c.235C>T | ENSP00000514438.1:p.Arg79Cys | |
| ENST00000699565.1:c.235C>T | ENSP00000514439.1:p.Arg79Cys | |
| ENST00000699566.1:c.235C>T | ENSP00000514440.1:p.Arg79Cys | |
| ENST00000699567.1:c.235C>T | ENSP00000514441.1:p.Arg79Cys | |
| ENST00000242576.7:c.262C>T MANE Select | ENSP00000242576.3:p.Arg88Cys | |
| ENST00000242576.6:c.262C>T | ENSP00000242576.2:p.Arg88Cys | |
| ENST00000336865.6:c.235C>T | ENSP00000337398.2:p.Arg79Cys | |
| ENST00000446767.2:c.235C>T | ENSP00000400287.2:p.Arg79Cys | |
| ENST00000539287.5:c.235C>T | ENSP00000440784.1:p.Arg79Cys | |
| ENST00000540158.1:n.263C>T | ||
| NM_003362.3:c.235C>T | NP_003353.1:p.Arg79Cys | |
| NM_080911.2:c.262C>T | NP_550433.1:p.Arg88Cys | |
| NM_003362.4:c.235C>T | NP_003353.1:p.Arg79Cys | |
| NM_080911.3:c.262C>T MANE Select | NP_550433.1:p.Arg88Cys |