Linked Data
ClinVar Variation Id:
230189
dbSNP Id:
rs532255760
ExAC:
11:61205265 C / T
gnomAD v2:
11-61205265-C-T
gnomAD v3:
11-61437793-C-T
gnomAD v4:
11-61437793-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61437793C>T , CM000673.2:g.61437793C>T | GRCh38 |
| NC_000011.9:g.61205265C>T , CM000673.1:g.61205265C>T | GRCh37 |
| NC_000011.8:g.60961841C>T | NCBI36 |
| NG_023393.1:g.12669C>T , LRG_519:g.12669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.205C>T MANE Select | ENSP00000301761.3:p.Arg69Cys | |
| ENST00000301761.6:c.205C>T | ENSP00000301761.2:p.Arg69Cys | |
| ENST00000359614.9:c.205C>T | ENSP00000352630.5:p.Arg69Cys | |
| ENST00000534878.5:c.205C>T | ENSP00000471030.1:p.Arg69Cys | |
| ENST00000536250.1:c.*207C>T | ENSP00000471120.1:n.*207C>T | |
| ENST00000536670.5:n.231C>T | ||
| ENST00000537782.5:c.205C>T | ENSP00000469951.1:p.Arg69Cys | |
| ENST00000538594.5:c.205C>T | ENSP00000440939.1:p.Arg69Cys | |
| ENST00000541135.5:c.205C>T | ENSP00000443130.1:p.Arg69Cys | |
| ENST00000542074.1:c.36+7611C>T | ENSP00000469670.1:n.36+7611C>T | |
| ENST00000542794.5:c.*207C>T | ENSP00000439983.1:n.*207C>T | |
| ENST00000543044.2:c.169C>T | ENSP00000440219.1:p.Arg57Cys | |
| ENST00000543265.1:c.205C>T | ENSP00000443660.1:p.Arg69Cys | |
| ENST00000544025.5:n.300C>T | ||
| ENST00000544801.5:c.205C>T | ENSP00000442581.1:p.Arg69Cys | |
| ENST00000544880.1:n.209C>T | ||
| NM_017841.2:c.205C>T , LRG_519t1:c.205C>T | NP_060311.1:p.Arg69Cys | |
| NM_017841.4:c.205C>T MANE Select | NP_060311.1:p.Arg69Cys |