Linked Data
ClinVar Variation Id:
100781
dbSNP Id:
rs587777161
COSMIC:
COSM4843589
PubMed:
PMID:23647072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.10213734G>A , CM000685.2:g.10213734G>A | GRCh38 |
| NC_000023.10:g.10181774G>A , CM000685.1:g.10181774G>A | GRCh37 |
| NC_000023.9:g.10141774G>A | NCBI36 |
| NG_012496.1:g.61790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380833.9:c.1630G>A MANE Select | ENSP00000370213.4:p.Gly544Arg | |
| ENST00000421085.7:c.1654G>A | ENSP00000405754.3:p.Gly552Arg | |
| ENST00000674669.1:c.1348G>A | ENSP00000501922.1:p.Gly450Arg | |
| ENST00000675144.1:c.*1404G>A | ENSP00000501600.1:n.*1404G>A | |
| ENST00000675769.1:c.1630G>A | ENSP00000502110.1:p.Gly544Arg | |
| ENST00000380829.5:c.1537G>A | ENSP00000370209.1:p.Gly513Arg | |
| ENST00000380833.8:c.1630G>A | ENSP00000370213.4:p.Gly544Arg | |
| ENST00000421085.6:c.1348G>A | ENSP00000405754.2:p.Gly450Arg | |
| NM_001256944.1:c.1348G>A | NP_001243873.1:p.Gly450Arg | |
| NM_001830.3:c.1630G>A | NP_001821.2:p.Gly544Arg | |
| NM_001830.4:c.1630G>A MANE Select | NP_001821.2:p.Gly544Arg | |
| NM_001256944.2:c.1348G>A | NP_001243873.1:p.Gly450Arg |