Linked Data
ClinVar Variation Id:
2887355
ClinVar RCV Id:
RCV003642513
dbSNP Id:
rs530712899
ExAC:
16:81922807 C / T
gnomAD v2:
16-81922807-C-T
gnomAD v3:
16-81889202-C-T
gnomAD v4:
16-81889202-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81889202C>T , CM000678.2:g.81889202C>T | GRCh38 |
| NC_000016.9:g.81922807C>T , CM000678.1:g.81922807C>T | GRCh37 |
| NC_000016.8:g.80480308C>T | NCBI36 |
| NG_032019.2:g.155106C>T , LRG_376:g.155106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.796C>T | ENSP00000455533.2:p.Arg266Cys | |
| ENST00000697561.1:c.*225C>T | ENSP00000513337.1:n.*225C>T | |
| ENST00000697562.1:c.796C>T | ENSP00000513338.1:p.Arg266Cys | |
| ENST00000697563.1:c.*642C>T | ENSP00000513339.1:n.*642C>T | |
| ENST00000697564.1:c.679C>T | ENSP00000513340.1:p.Arg227Cys | |
| ENST00000697565.1:n.736C>T | ||
| ENST00000697581.1:c.*790C>T | ENSP00000513346.1:n.*790C>T | |
| ENST00000697582.1:c.796C>T | ENSP00000513347.1:p.Arg266Cys | |
| ENST00000697583.1:c.595C>T | ENSP00000513349.1:p.Arg199Cys | |
| ENST00000697584.1:c.595C>T | ENSP00000513350.1:p.Arg199Cys | |
| ENST00000697585.1:c.595C>T | ENSP00000513351.1:p.Arg199Cys | |
| ENST00000697586.1:c.595C>T | ENSP00000513352.1:p.Arg199Cys | |
| ENST00000697587.1:c.595C>T | ENSP00000513353.1:p.Arg199Cys | |
| ENST00000564138.6:c.796C>T MANE Select | ENSP00000482457.1:p.Arg266Cys | |
| ENST00000359376.7:c.796C>T | ENSP00000352336.4:p.Arg266Cys | |
| ENST00000563193.1:c.104C>T | ||
| ENST00000564138.5:c.796C>T | ENSP00000482457.1:p.Arg266Cys | |
| ENST00000567980.5:n.1040C>T | ||
| NM_002661.4:c.796C>T | NP_002652.2:p.Arg266Cys | |
| XM_011523108.1:c.910C>T | XP_011521410.1:p.Arg304Cys | |
| NM_002661.5:c.796C>T MANE Select | NP_002652.2:p.Arg266Cys |