Linked Data
ClinVar Variation Id:
1111663
ClinVar RCV Id:
RCV001438331
dbSNP Id:
rs2148396042
MyVariant Identifiers:
chrX:g.153002636G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153737182G>A , CM000685.2:g.153737182G>A | GRCh38 |
| NC_000023.10:g.153002636G>A , CM000685.1:g.153002636G>A | GRCh37 |
| NC_000023.9:g.152655830G>A | NCBI36 |
| NG_009022.2:g.17315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1419G>A MANE Select | ENSP00000218104.3:p.Gly473= | |
| ENST00000218104.5:c.1419G>A | ENSP00000218104.3:p.Gly473= | |
| ENST00000443684.2:n.422G>A | ||
| NM_000033.3:c.1419G>A | NP_000024.2:p.Gly473= | |
| XR_938507.1:n.1891G>A | ||
| XR_938507.2:n.1891G>A | ||
| NM_000033.4:c.1419G>A MANE Select | NP_000024.2:p.Gly473= |