Linked Data
ClinVar Variation Id:
35643
dbSNP Id:
rs193922098
ExAC:
X:152991559 C / T
gnomAD v2:
X-152991559-C-T
gnomAD v4:
X-153726104-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726104C>T , CM000685.2:g.153726104C>T | GRCh38 |
| NC_000023.10:g.152991559C>T , CM000685.1:g.152991559C>T | GRCh37 |
| NC_000023.9:g.152644753C>T | NCBI36 |
| NG_009022.2:g.6237C>T | |
| NG_023231.1:g.3643G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218104.6:c.838C>T MANE Select | ENSP00000218104.3:p.Arg280Cys | |
| ENST00000218104.5:c.838C>T | ENSP00000218104.3:p.Arg280Cys | |
| ENST00000370129.4:c.283C>T | ENSP00000359147.3:p.Arg95Cys | |
| NM_000033.3:c.838C>T | NP_000024.2:p.Arg280Cys | |
| XR_938507.1:n.1254C>T | ||
| XR_938507.2:n.1254C>T | ||
| NM_000033.4:c.838C>T MANE Select | NP_000024.2:p.Arg280Cys |