Linked Data
ClinVar Variation Id:
1138399
ClinVar RCV Id:
RCV001474758
dbSNP Id:
rs2091765039
gnomAD v3:
X-153740712-G-A
gnomAD v4:
X-153740712-G-A
MyVariant Identifiers:
chrX:g.153006166G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740712G>A , CM000685.2:g.153740712G>A | GRCh38 |
| NC_000023.10:g.153006166G>A , CM000685.1:g.153006166G>A | GRCh37 |
| NC_000023.9:g.152659360G>A | NCBI36 |
| NG_009022.2:g.20845G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1773G>A MANE Select | ENSP00000218104.3:p.Arg591= | |
| ENST00000218104.5:c.1773G>A | ENSP00000218104.3:p.Arg591= | |
| NM_000033.3:c.1773G>A | NP_000024.2:p.Arg591= | |
| XR_938507.1:n.2245G>A | ||
| XR_938507.2:n.2245G>A | ||
| NM_000033.4:c.1773G>A MANE Select | NP_000024.2:p.Arg591= |