Linked Data
ClinVar Variation Id:
38908
ClinVar RCV Id:
RCV000032156
dbSNP Id:
rs113994156
gnomAD v4:
15-89776628-A-G
PubMed:
PMID:20301771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776628A>G , CM000677.2:g.89776628A>G | GRCh38 |
| NC_000015.9:g.90319859A>G , CM000677.1:g.90319859A>G | GRCh37 |
| NC_000015.8:g.88120863A>G | NCBI36 |
| NG_008608.1:g.5271A>G | |
| NG_008608.2:g.21038A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341735.5:c.271A>G MANE Select | ENSP00000342392.3:p.Lys91Glu | |
| ENST00000341735.3:c.271A>G | ENSP00000342392.3:p.Lys91Glu | |
| ENST00000558723.1:n.39-1437A>G | ||
| ENST00000560219.2:c.31-1437A>G | ENSP00000452998.1:n.31-1437A>G | |
| NM_001039958.1:c.271A>G | NP_001035047.1:p.Lys91Glu | |
| NM_001039958.2:c.271A>G MANE Select | NP_001035047.1:p.Lys91Glu |