Linked Data
ClinVar Variation Id:
1073700
ClinVar RCV Id:
RCV001386772
dbSNP Id:
rs128624225
gnomAD v4:
X-153743023-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743023C>A , CM000685.2:g.153743023C>A | GRCh38 |
| NC_000023.10:g.153008477C>A , CM000685.1:g.153008477C>A | GRCh37 |
| NC_000023.9:g.152661671C>A | NCBI36 |
| NG_009022.2:g.23156C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1817C>A MANE Select | ENSP00000218104.3:p.Ser606Ter | |
| ENST00000218104.5:c.1817C>A | ENSP00000218104.3:p.Ser606Ter | |
| NM_000033.3:c.1817C>A | NP_000024.2:p.Ser606Ter | |
| XR_938507.1:n.2289C>A | ||
| XR_938507.2:n.2289C>A | ||
| NM_000033.4:c.1817C>A MANE Select | NP_000024.2:p.Ser606Ter |