Linked Data
ClinVar Variation Id:
11298
ClinVar RCV Id:
RCV000012050
dbSNP Id:
rs128624217
PubMed:
PMID:7849723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725786T>G , CM000685.2:g.153725786T>G | GRCh38 |
| NC_000023.10:g.152991241T>G , CM000685.1:g.152991241T>G | GRCh37 |
| NC_000023.9:g.152644435T>G | NCBI36 |
| NG_009022.2:g.5919T>G | |
| NG_023231.1:g.3961A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.520T>G MANE Select | ENSP00000218104.3:p.Tyr174Asp | |
| ENST00000218104.5:c.520T>G | ENSP00000218104.3:p.Tyr174Asp | |
| NM_000033.3:c.520T>G | NP_000024.2:p.Tyr174Asp | |
| XR_938507.1:n.936T>G | ||
| XR_938507.2:n.936T>G | ||
| NM_000033.4:c.520T>G MANE Select | NP_000024.2:p.Tyr174Asp |