Linked Data
ClinVar Variation Id:
623118
ClinVar RCV Id:
RCV000761218
dbSNP Id:
rs1557055337
gnomAD v2:
X-153008782-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743328C>T , CM000685.2:g.153743328C>T | GRCh38 |
| NC_000023.10:g.153008782C>T , CM000685.1:g.153008782C>T | GRCh37 |
| NC_000023.9:g.152661976C>T | NCBI36 |
| NG_009022.2:g.23461C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1973C>T MANE Select | ENSP00000218104.3:p.Thr658Ile | |
| ENST00000218104.5:c.1973C>T | ENSP00000218104.3:p.Thr658Ile | |
| NM_000033.3:c.1973C>T | NP_000024.2:p.Thr658Ile | |
| XR_938507.1:n.2445C>T | ||
| XR_938507.2:n.2445C>T | ||
| NM_000033.4:c.1973C>T MANE Select | NP_000024.2:p.Thr658Ile |