Linked Data
ClinVar Variation Id:
251425
dbSNP Id:
rs879254659
ERepo:
CA10585105/MONDO:0007750/013
PubMed:
PMID:10532689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11106597T>C , CM000681.2:g.11106597T>C | GRCh38 |
| NC_000019.9:g.11217273T>C , CM000681.1:g.11217273T>C | GRCh37 |
| NC_000019.8:g.11078273T>C | NCBI36 |
| NG_009060.1:g.22217T>C , LRG_274:g.22217T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.985T>C | ENSP00000252444.6:p.Cys329Arg | |
| ENST00000559340.2:c.727T>C | ENSP00000453696.2:p.Cys243Arg | |
| ENST00000560467.2:c.727T>C | ENSP00000453513.2:p.Cys243Arg | |
| ENST00000558518.6:c.727T>C MANE Select | ENSP00000454071.1:p.Cys243Arg | |
| ENST00000252444.9:c.981T>C | ||
| ENST00000455727.6:c.314-795T>C | ENSP00000397829.2:n.314-795T>C | |
| ENST00000535915.5:c.604T>C | ENSP00000440520.1:p.Cys202Arg | |
| ENST00000545707.5:c.346T>C | ENSP00000437639.1:p.Cys116Arg | |
| ENST00000557933.5:c.727T>C | ENSP00000453557.1:p.Cys243Arg | |
| ENST00000558013.5:c.727T>C | ENSP00000453346.1:p.Cys243Arg | |
| ENST00000558518.5:c.727T>C | ENSP00000454071.1:p.Cys243Arg | |
| ENST00000558528.1:n.242T>C | ||
| ENST00000560467.1:c.327T>C | ||
| NM_000527.4:c.727T>C , LRG_274t1:c.727T>C | NP_000518.1:p.Cys243Arg | |
| NM_001195798.1:c.727T>C | NP_001182727.1:p.Cys243Arg | |
| NM_001195799.1:c.604T>C | NP_001182728.1:p.Cys202Arg | |
| NM_001195800.1:c.314-795T>C | NP_001182729.1:n.314-795T>C | |
| NM_001195803.1:c.346T>C | NP_001182732.1:p.Cys116Arg | |
| XM_011528010.1:c.727T>C | XP_011526312.1:p.Cys243Arg | |
| XM_011528011.1:c.346T>C | XP_011526313.1:p.Cys116Arg | |
| XR_244074.2:n.877T>C | ||
| XM_011528010.2:c.727T>C | XP_011526312.1:p.Cys243Arg | |
| XR_001753685.2:n.844T>C | ||
| XR_001753686.2:n.844T>C | ||
| NM_000527.5:c.727T>C MANE Select | NP_000518.1:p.Cys243Arg | |
| NM_001195798.2:c.727T>C | NP_001182727.1:p.Cys243Arg | |
| NM_001195799.2:c.604T>C | NP_001182728.1:p.Cys202Arg | |
| NM_001195800.2:c.314-795T>C | NP_001182729.1:n.314-795T>C | |
| NM_001195803.2:c.346T>C | NP_001182732.1:p.Cys116Arg |