Linked Data
ClinVar Variation Id:
101044
ClinVar RCV Id:
RCV000087302
dbSNP Id:
rs587777185
PubMed:
PMID:24355708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7554578G>A , CM000681.2:g.7554578G>A | GRCh38 |
| NC_000019.9:g.7619464G>A , CM000681.1:g.7619464G>A | GRCh37 |
| NC_000019.8:g.7525464G>A | NCBI36 |
| NG_013374.1:g.25427G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.2489G>A MANE Select | ENSP00000473211.1:p.Gly830Glu | |
| ENST00000221249.10:c.2375G>A | ENSP00000221249.5:p.Gly792Glu | |
| ENST00000414982.7:c.2519G>A | ENSP00000407509.2:p.Gly840Glu | |
| ENST00000450331.7:c.2375G>A | ENSP00000394348.2:p.Gly792Glu | |
| ENST00000545201.6:c.2294G>A | ENSP00000443323.1:p.Gly765Glu | |
| ENST00000600737.5:c.2489G>A | ENSP00000473211.1:p.Gly830Glu | |
| NM_001166111.1:c.2519G>A | NP_001159583.1:p.Gly840Glu | |
| NM_001166112.1:c.2294G>A | NP_001159584.1:p.Gly765Glu | |
| NM_001166113.1:c.2375G>A | NP_001159585.1:p.Gly792Glu | |
| NM_001166114.1:c.2489G>A | NP_001159586.1:p.Gly830Glu | |
| NM_006702.4:c.2375G>A | NP_006693.3:p.Gly792Glu | |
| NM_001166111.2:c.2519G>A | NP_001159583.1:p.Gly840Glu | |
| NM_001166114.2:c.2489G>A MANE Select | NP_001159586.1:p.Gly830Glu | |
| NM_006702.5:c.2375G>A | NP_006693.3:p.Gly792Glu | |
| NM_001166112.2:c.2294G>A | NP_001159584.1:p.Gly765Glu |