Linked Data
ClinVar Variation Id:
11292
ClinVar RCV Id:
RCV000012044
dbSNP Id:
rs128624213
gnomAD v4:
X-153726137-G-A
PubMed:
PMID:7904210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726137G>A , CM000685.2:g.153726137G>A | GRCh38 |
| NC_000023.10:g.152991592G>A , CM000685.1:g.152991592G>A | GRCh37 |
| NC_000023.9:g.152644786G>A | NCBI36 |
| NG_009022.2:g.6270G>A | |
| NG_023231.1:g.3610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.871G>A MANE Select | ENSP00000218104.3:p.Glu291Lys | |
| ENST00000218104.5:c.871G>A | ENSP00000218104.3:p.Glu291Lys | |
| ENST00000370129.4:c.316G>A | ENSP00000359147.3:p.Glu106Lys | |
| NM_000033.3:c.871G>A | NP_000024.2:p.Glu291Lys | |
| XR_938507.1:n.1287G>A | ||
| XR_938507.2:n.1287G>A | ||
| NM_000033.4:c.871G>A MANE Select | NP_000024.2:p.Glu291Lys |