Linked Data
ClinVar Variation Id:
11293
ClinVar RCV Id:
RCV000012045
dbSNP Id:
rs128624214
PubMed:
PMID:7811247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153737214C>G , CM000685.2:g.153737214C>G | GRCh38 |
| NC_000023.10:g.153002668C>G , CM000685.1:g.153002668C>G | GRCh37 |
| NC_000023.9:g.152655862C>G | NCBI36 |
| NG_009022.2:g.17347C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1451C>G MANE Select | ENSP00000218104.3:p.Pro484Arg | |
| ENST00000218104.5:c.1451C>G | ENSP00000218104.3:p.Pro484Arg | |
| ENST00000443684.2:n.454C>G | ||
| NM_000033.3:c.1451C>G | NP_000024.2:p.Pro484Arg | |
| XR_938507.1:n.1923C>G | ||
| XR_938507.2:n.1923C>G | ||
| NM_000033.4:c.1451C>G MANE Select | NP_000024.2:p.Pro484Arg |