Linked Data
ClinVar Variation Id:
193033
dbSNP Id:
rs797044610
gnomAD v4:
X-153726153-A-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726153A>G , CM000685.2:g.153726153A>G | GRCh38 |
| NC_000023.10:g.152991608A>G , CM000685.1:g.152991608A>G | GRCh37 |
| NC_000023.9:g.152644802A>G | NCBI36 |
| NG_009022.2:g.6286A>G | |
| NG_023231.1:g.3594T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.887A>G MANE Select | ENSP00000218104.3:p.Tyr296Cys | |
| ENST00000218104.5:c.887A>G | ENSP00000218104.3:p.Tyr296Cys | |
| ENST00000370129.4:c.332A>G | ENSP00000359147.3:p.Tyr111Cys | |
| NM_000033.3:c.887A>G | NP_000024.2:p.Tyr296Cys | |
| XR_938507.1:n.1303A>G | ||
| XR_938507.2:n.1303A>G | ||
| NM_000033.4:c.887A>G MANE Select | NP_000024.2:p.Tyr296Cys |