Linked Data
ClinVar Variation Id:
485053
dbSNP Id:
rs140530307
ExAC:
11:67256840 C / T
gnomAD v2:
11-67256840-C-T
gnomAD v3:
11-67489369-C-T
gnomAD v4:
11-67489369-C-T
PubMed:
PMID:26792934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67489369C>T , CM000673.2:g.67489369C>T | GRCh38 |
| NC_000011.9:g.67256840C>T , CM000673.1:g.67256840C>T | GRCh37 |
| NC_000011.8:g.67013416C>T | NCBI36 |
| NG_008969.1:g.11336C>T , LRG_460:g.11336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.359C>T | ||
| ENST00000528641.7:c.280-669C>T | ENSP00000434982.3:n.280-669C>T | |
| ENST00000529797.2:n.312C>T | ||
| ENST00000682324.1:c.382C>T | ENSP00000508017.1:p.Arg128Cys | |
| ENST00000682659.1:c.100-669C>T | ENSP00000507351.1:n.100-669C>T | |
| ENST00000682699.1:c.382C>T | ENSP00000507935.1:p.Arg128Cys | |
| ENST00000683237.1:c.382C>T | ENSP00000507343.1:p.Arg128Cys | |
| ENST00000683856.1:c.205C>T | ENSP00000507979.1:p.Arg69Cys | |
| ENST00000684006.1:c.382C>T | ENSP00000507269.1:p.Arg128Cys | |
| ENST00000684657.1:c.202C>T | ENSP00000507961.1:p.Arg68Cys | |
| ENST00000279146.8:c.382C>T MANE Select | ENSP00000279146.3:p.Arg128Cys | |
| ENST00000279146.7:c.382C>T | ENSP00000279146.3:p.Arg128Cys | |
| ENST00000525341.1:c.34C>T | ENSP00000476993.1:p.Arg12Cys | |
| ENST00000528641.6:c.280-669C>T | ENSP00000434982.2:n.280-669C>T | |
| ENST00000529797.1:n.492C>T | ||
| NM_001302959.1:c.205C>T | NP_001289888.1:p.Arg69Cys | |
| NM_001302960.1:c.382C>T | NP_001289889.1:p.Arg128Cys | |
| NM_003977.3:c.382C>T | NP_003968.3:p.Arg128Cys | |
| XM_024448761.1:c.382C>T | XP_024304529.1:p.Arg128Cys | |
| NM_003977.4:c.382C>T MANE Select | NP_003968.3:p.Arg128Cys | |
| NM_001302960.2:c.382C>T | NP_001289889.1:p.Arg128Cys | |
| NM_001302959.2:c.205C>T | NP_001289888.1:p.Arg69Cys |