Linked Data
ClinVar Variation Id:
9768
ClinVar RCV Id:
RCV000010422
dbSNP Id:
rs28933690
PubMed:
PMID:11761473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37728007T>C , CM000685.2:g.37728007T>C | GRCh38 |
| NC_000023.10:g.37587260T>C , CM000685.1:g.37587260T>C | GRCh37 |
| NC_000023.9:g.37472199T>C | NCBI36 |
| NG_007473.1:g.47148T>C | |
| NG_007473.3:g.47128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.880T>C MANE Select | ENSP00000367879.3:p.Cys294Arg | |
| ENST00000378616.3:c.880T>C | ENSP00000367879.3:p.Cys294Arg | |
| ENST00000465127.1:c.171+302007T>C | ENSP00000417050.1:n.171+302007T>C | |
| NM_021083.2:c.880T>C | NP_066569.1:p.Cys294Arg | |
| NM_021083.4:c.880T>C MANE Select | NP_066569.1:p.Cys294Arg |