Linked Data
ClinVar Variation Id:
522985
ClinVar RCV Id:
RCV000626183
dbSNP Id:
rs782546330
ExAC:
X:153002669 C / G
gnomAD v2:
X-153002669-C-G
gnomAD v3:
X-153737215-C-G
gnomAD v4:
X-153737215-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153737215C>G , CM000685.2:g.153737215C>G | GRCh38 |
| NC_000023.10:g.153002669C>G , CM000685.1:g.153002669C>G | GRCh37 |
| NC_000023.9:g.152655863C>G | NCBI36 |
| NG_009022.2:g.17348C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1452C>G MANE Select | ENSP00000218104.3:p.Pro484= | |
| ENST00000218104.5:c.1452C>G | ENSP00000218104.3:p.Pro484= | |
| ENST00000443684.2:n.455C>G | ||
| NM_000033.3:c.1452C>G | NP_000024.2:p.Pro484= | |
| XR_938507.1:n.1924C>G | ||
| XR_938507.2:n.1924C>G | ||
| NM_000033.4:c.1452C>G MANE Select | NP_000024.2:p.Pro484= |