Linked Data
ClinVar Variation Id:
7355
ClinVar RCV Id:
RCV000007780
dbSNP Id:
rs104894296
PubMed:
PMID:12189593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307244G>A , CM000673.2:g.121307244G>A | GRCh38 |
| NC_000011.9:g.121177953G>A , CM000673.1:g.121177953G>A | GRCh37 |
| NC_000011.8:g.120683163G>A | NCBI36 |
| NG_009446.1:g.19566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.632G>A MANE Select | ENSP00000264027.4:p.Gly211Asp | |
| ENST00000264027.8:c.632G>A | ENSP00000264027.4:p.Gly211Asp | |
| ENST00000392789.2:c.632G>A | ENSP00000376539.2:p.Gly211Asp | |
| ENST00000527183.1:n.925G>A | ||
| ENST00000528991.1:n.325G>A | ||
| ENST00000534230.5:c.631+1G>A | ENSP00000432550.1:n.631+1G>A | |
| NM_001024956.2:c.632G>A | NP_001020127.1:p.Gly211Asp | |
| NM_006918.4:c.632G>A | NP_008849.2:p.Gly211Asp | |
| NM_006918.5:c.632G>A MANE Select | NP_008849.2:p.Gly211Asp | |
| NM_001024956.3:c.632G>A | NP_001020127.1:p.Gly211Asp |