Linked Data
ClinVar Variation Id:
1539284
ClinVar RCV Id:
RCV002176857
dbSNP Id:
rs2148395685
MyVariant Identifiers:
chrX:g.153001930G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736476G>A , CM000685.2:g.153736476G>A | GRCh38 |
| NC_000023.10:g.153001930G>A , CM000685.1:g.153001930G>A | GRCh37 |
| NC_000023.9:g.152655124G>A | NCBI36 |
| NG_009022.2:g.16609G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1356G>A MANE Select | ENSP00000218104.3:p.Arg452= | |
| ENST00000218104.5:c.1356G>A | ENSP00000218104.3:p.Arg452= | |
| ENST00000443684.2:n.359G>A | ||
| NM_000033.3:c.1356G>A | NP_000024.2:p.Arg452= | |
| XR_938507.1:n.1772G>A | ||
| XR_938507.2:n.1772G>A | ||
| NM_000033.4:c.1356G>A MANE Select | NP_000024.2:p.Arg452= |