Linked Data
ClinVar Variation Id:
4489
ClinVar RCV Id:
RCV000004746
dbSNP Id:
rs121908182
PubMed:
PMID:11528383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25809096G>A , CM000663.2:g.25809096G>A | GRCh38 |
| NC_000001.10:g.26135587G>A , CM000663.1:g.26135587G>A | GRCh37 |
| NC_000001.9:g.26008174G>A | NCBI36 |
| NG_009930.1:g.13921G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354177.9:c.647G>A | ENSP00000346109.5:p.Gly216Glu | |
| ENST00000494537.2:c.716G>A | ENSP00000508308.1:p.Gly239Glu | |
| ENST00000361547.7:c.818G>A MANE Select | ENSP00000355141.2:p.Gly273Glu | |
| ENST00000354177.8:c.716G>A | ENSP00000346109.4:p.Gly239Glu | |
| ENST00000361547.6:c.818G>A | ENSP00000355141.2:p.Gly273Glu | |
| ENST00000374315.1:c.716G>A | ENSP00000363434.1:p.Gly239Glu | |
| NM_020451.2:c.818G>A | NP_065184.2:p.Gly273Glu | |
| NM_206926.1:c.716G>A | NP_996809.1:p.Gly239Glu | |
| NM_020451.3:c.818G>A MANE Select | NP_065184.2:p.Gly273Glu | |
| NM_206926.2:c.716G>A | NP_996809.1:p.Gly239Glu |