Linked Data
ClinVar Variation Id:
9858
ClinVar RCV Id:
RCV000010533
dbSNP Id:
rs137852600
PubMed:
PMID:12466388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717535G>A , CM000685.2:g.67717535G>A | GRCh38 |
| NC_000023.10:g.66937377G>A , CM000685.1:g.66937377G>A | GRCh37 |
| NC_000023.9:g.66854102G>A | NCBI36 |
| NG_009014.2:g.178504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*579G>A | ENSP00000379358.4:n.*579G>A | |
| ENST00000374690.9:c.2231G>A MANE Select | ENSP00000363822.3:p.Gly744Glu | |
| ENST00000396043.3:c.858G>A | ENSP00000379358.3:n.858G>A | |
| ENST00000396044.8:c.2173+5846G>A | ENSP00000379359.3:n.2173+5846G>A | |
| ENST00000612452.5:c.2231G>A | ENSP00000484033.2:p.Gly744Glu | |
| ENST00000374690.7:c.2231G>A | ENSP00000363822.3:p.Gly744Glu | |
| ENST00000396043.2:c.635G>A | ENSP00000379358.2:p.Gly212Glu | |
| ENST00000396044.7:c.2173+5846G>A | ENSP00000379359.3:n.2173+5846G>A | |
| ENST00000612452.4:c.1661G>A | ENSP00000484033.1:p.Gly554Glu | |
| NM_000044.3:c.2231G>A | NP_000035.2:p.Gly744Glu | |
| NM_001011645.2:c.635G>A | NP_001011645.1:p.Gly212Glu | |
| NM_000044.4:c.2231G>A | NP_000035.2:p.Gly744Glu | |
| NM_001011645.3:c.635G>A | NP_001011645.1:p.Gly212Glu | |
| NM_000044.6:c.2231G>A MANE Select | NP_000035.2:p.Gly744Glu |