Linked Data
ClinVar Variation Id:
8424
ClinVar RCV Id:
RCV000008935
dbSNP Id:
rs74315305
PubMed:
PMID:10491211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150806109C>T , CM000663.2:g.150806109C>T | GRCh38 |
| NC_000001.10:g.150778585C>T , CM000663.1:g.150778585C>T | GRCh37 |
| NC_000001.9:g.149045209C>T | NCBI36 |
| NG_011848.1:g.7228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.236G>A MANE Select | ENSP00000271651.3:p.Gly79Glu | |
| ENST00000443913.2:c.413G>A | ENSP00000405083.2:p.Gly138Glu | |
| ENST00000480670.2:n.3305G>A | ||
| ENST00000676680.1:c.236G>A | ENSP00000503270.1:p.Gly79Glu | |
| ENST00000676716.1:c.121-93G>A | ENSP00000504737.1:n.121-93G>A | |
| ENST00000676751.1:c.236G>A | ENSP00000502964.1:p.Gly79Glu | |
| ENST00000676824.1:c.236G>A | ENSP00000504176.1:p.Gly79Glu | |
| ENST00000676966.1:c.236G>A | ENSP00000503723.1:p.Gly79Glu | |
| ENST00000676970.1:c.236G>A | ENSP00000503832.1:p.Gly79Glu | |
| ENST00000677330.1:n.2062G>A | ||
| ENST00000677611.1:n.3G>A | ||
| ENST00000677887.1:c.278G>A | ENSP00000503876.1:p.Gly93Glu | |
| ENST00000678275.1:c.*128G>A | ENSP00000504796.1:n.*128G>A | |
| ENST00000678337.1:c.272G>A | ENSP00000504759.1:p.Gly91Glu | |
| ENST00000678725.1:n.1213G>A | ||
| ENST00000679090.1:n.821G>A | ||
| ENST00000679148.1:n.1577G>A | ||
| ENST00000679171.1:n.2597G>A | ||
| ENST00000679260.1:c.236G>A | ENSP00000504534.1:p.Gly79Glu | |
| ENST00000271651.7:c.236G>A | ENSP00000271651.3:p.Gly79Glu | |
| ENST00000443913.1:c.413G>A | ENSP00000405083.1:p.Gly138Glu | |
| ENST00000480670.1:n.84-93G>A | ||
| NM_000396.3:c.236G>A | NP_000387.1:p.Gly79Glu | |
| NM_000396.4:c.236G>A MANE Select | NP_000387.1:p.Gly79Glu |