Linked Data
ClinVar Variation Id:
991381
ClinVar RCV Id:
RCV001279588
dbSNP Id:
rs2091764661
gnomAD v4:
X-153740645-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740645A>G , CM000685.2:g.153740645A>G | GRCh38 |
| NC_000023.10:g.153006099A>G , CM000685.1:g.153006099A>G | GRCh37 |
| NC_000023.9:g.152659293A>G | NCBI36 |
| NG_009022.2:g.20778A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1706A>G MANE Select | ENSP00000218104.3:p.Lys569Arg | |
| ENST00000218104.5:c.1706A>G | ENSP00000218104.3:p.Lys569Arg | |
| NM_000033.3:c.1706A>G | NP_000024.2:p.Lys569Arg | |
| XR_938507.1:n.2178A>G | ||
| XR_938507.2:n.2178A>G | ||
| NM_000033.4:c.1706A>G MANE Select | NP_000024.2:p.Lys569Arg |