Linked Data
ClinVar Variation Id:
50992
ClinVar RCV Id:
RCV000043688
dbSNP Id:
rs397514706
gnomAD v2:
15-40764233-G-C
gnomAD v4:
15-40472034-G-C
COSMIC:
COSM4775928
PubMed:
PMID:22581468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472034G>C , CM000677.2:g.40472034G>C | GRCh38 |
| NC_000015.9:g.40764233G>C , CM000677.1:g.40764233G>C | GRCh37 |
| NC_000015.8:g.38551525G>C | NCBI36 |
| NG_017074.1:g.6074G>C , LRG_600:g.6074G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.821G>C MANE Select | ENSP00000307297.6:p.Arg274Pro | |
| ENST00000306243.6:c.821G>C | ENSP00000307297.5:p.Arg274Pro | |
| ENST00000559991.1:c.746G>C | ENSP00000453882.1:p.Arg249Pro | |
| NM_130468.3:c.821G>C , LRG_600t1:c.821G>C | NP_569735.1:p.Arg274Pro | |
| NM_130468.4:c.821G>C MANE Select | NP_569735.1:p.Arg274Pro |