Linked Data
ClinVar Variation Id:
263804
ClinVar RCV Id:
RCV002310852
dbSNP Id:
rs794728241
PubMed:
PMID:15161917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445468C>G , CM000677.2:g.48445468C>G | GRCh38 |
| NC_000015.9:g.48737665C>G , CM000677.1:g.48737665C>G | GRCh37 |
| NC_000015.8:g.46524957C>G | NCBI36 |
| NG_008805.2:g.205321G>C , LRG_778:g.205321G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5825G>C | ENSP00000453958.2:p.Cys1942Ser | |
| ENST00000674301.2:c.5825G>C | ENSP00000501333.2:p.Cys1942Ser | |
| ENST00000684448.1:n.4499G>C | ||
| ENST00000316623.10:c.5825G>C MANE Select | ENSP00000325527.5:p.Cys1942Ser | |
| ENST00000674301.1:c.824G>C | ENSP00000501333.1:p.Cys275Ser | |
| ENST00000316623.9:c.5825G>C | ENSP00000325527.5:p.Cys1942Ser | |
| ENST00000537463.6:c.*1588G>C | ENSP00000440294.2:n.*1588G>C | |
| ENST00000559133.5:c.1132G>C | ||
| NM_000138.4:c.5825G>C , LRG_778t1:c.5825G>C | NP_000129.3:p.Cys1942Ser | |
| NM_000138.5:c.5825G>C MANE Select | NP_000129.3:p.Cys1942Ser |