Linked Data
ClinVar Variation Id:
92317
dbSNP Id:
rs398123102
ExAC:
X:153005610 G / A
gnomAD v2:
X-153005610-G-A
gnomAD v4:
X-153740156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740156G>A , CM000685.2:g.153740156G>A | GRCh38 |
| NC_000023.10:g.153005610G>A , CM000685.1:g.153005610G>A | GRCh37 |
| NC_000023.9:g.152658804G>A | NCBI36 |
| NG_009022.2:g.20289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1553G>A MANE Select | ENSP00000218104.3:p.Arg518Gln | |
| ENST00000218104.5:c.1553G>A | ENSP00000218104.3:p.Arg518Gln | |
| ENST00000443684.2:n.556G>A | ||
| NM_000033.3:c.1553G>A | NP_000024.2:p.Arg518Gln | |
| XR_938507.1:n.2025G>A | ||
| XR_938507.2:n.2025G>A | ||
| NM_000033.4:c.1553G>A MANE Select | NP_000024.2:p.Arg518Gln |