Identifiers and link-outs to other resources
ClinVar Variation Id:
53976
ClinVar RCV Id:
RCV000576939
dbSNP Id:
rs397508736
User contributed link-outs
PubMed:
PMID:20059485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117534280T>C , CM000669.2:g.117534280T>C | GRCh38 |
| NC_000007.13:g.117174334T>C , CM000669.1:g.117174334T>C | GRCh37 |
| NC_000007.12:g.116961570T>C | NCBI36 |
| NG_016465.4:g.73497T>C , LRG_663:g.73497T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000492.3:c.494T>C , LRG_663t1:c.494T>C | NP_000483.3:p.Leu165Ser | |
| XM_011515751.1:c.584T>C | XP_011514053.1:p.Leu195Ser | |
| XM_011515752.1:c.584T>C | XP_011514054.1:p.Leu195Ser | |
| XM_011515753.1:c.251T>C | XP_011514055.1:p.Leu84Ser | |
| XM_011515754.1:c.251T>C | XP_011514056.1:p.Leu84Ser | |
| NM_000492.4:c.494T>C VV MANE Preferred | NP_000483.3:p.Leu165Ser | |
| ENST00000003084.10:c.494T>C | ENSP00000003084.6:p.Leu165Ser | |
| ENST00000426809.5:n.490-968T>C | ENSP00000389119.1:p.= |