Linked Data
ClinVar Variation Id:
8769
ClinVar RCV Id:
RCV000009314
dbSNP Id:
rs267606936
PubMed:
PMID:19887631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93663028G>A , CM000672.2:g.93663028G>A | GRCh38 |
| NC_000010.10:g.95422785G>A , CM000672.1:g.95422785G>A | GRCh37 |
| NC_000010.9:g.95412775G>A | NCBI36 |
| NG_016752.1:g.55441G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371447.4:c.2368G>A MANE Select | ENSP00000360502.3:p.Glu790Lys | |
| ENST00000371447.3:c.2368G>A | ENSP00000360502.3:p.Glu790Lys | |
| ENST00000475427.2:n.162+385G>A | ||
| NM_006204.3:c.2368G>A | NP_006195.3:p.Glu790Lys | |
| NM_006204.4:c.2368G>A MANE Select | NP_006195.3:p.Glu790Lys |