Linked Data
ClinVar Variation Id:
1587362
ClinVar RCV Id:
RCV002103229
dbSNP Id:
rs781904354
gnomAD v2:
X-153001663-A-G
gnomAD v4:
X-153736209-A-G
MyVariant Identifiers:
chrX:g.153001663A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736209A>G , CM000685.2:g.153736209A>G | GRCh38 |
| NC_000023.10:g.153001663A>G , CM000685.1:g.153001663A>G | GRCh37 |
| NC_000023.9:g.152654857A>G | NCBI36 |
| NG_009022.2:g.16342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1179A>G MANE Select | ENSP00000218104.3:p.Thr393= | |
| ENST00000218104.5:c.1179A>G | ENSP00000218104.3:p.Thr393= | |
| ENST00000443684.2:n.182A>G | ||
| NM_000033.3:c.1179A>G | NP_000024.2:p.Thr393= | |
| XR_938507.1:n.1595A>G | ||
| XR_938507.2:n.1595A>G | ||
| NM_000033.4:c.1179A>G MANE Select | NP_000024.2:p.Thr393= |