Linked Data
ClinVar Variation Id:
65556
ClinVar RCV Id:
RCV002054896
dbSNP Id:
rs397515513
PubMed:
PMID:20301302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18784236G>C , CM000681.2:g.18784236G>C | GRCh38 |
| NC_000019.9:g.18895046G>C , CM000681.1:g.18895046G>C | GRCh37 |
| NC_000019.8:g.18756046G>C | NCBI36 |
| NG_007070.1:g.12069C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.2042C>G MANE Select | ENSP00000222271.2:p.Ser681Cys | |
| ENST00000222271.6:c.2042C>G | ENSP00000222271.2:p.Ser681Cys | |
| ENST00000425807.1:c.1883C>G | ENSP00000403792.1:p.Ser628Cys | |
| ENST00000542601.6:c.1943C>G | ENSP00000439156.2:p.Ser648Cys | |
| NM_000095.2:c.2042C>G | NP_000086.2:p.Ser681Cys | |
| NM_000095.3:c.2042C>G MANE Select | NP_000086.2:p.Ser681Cys |