Linked Data
ClinVar Variation Id:
3014105
ClinVar RCV Id:
RCV003875744
dbSNP Id:
rs1557054160
gnomAD v2:
X-153001578-T-A
gnomAD v4:
X-153736124-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736124T>A , CM000685.2:g.153736124T>A | GRCh38 |
| NC_000023.10:g.153001578T>A , CM000685.1:g.153001578T>A | GRCh37 |
| NC_000023.9:g.152654772T>A | NCBI36 |
| NG_009022.2:g.16257T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1094T>A MANE Select | ENSP00000218104.3:p.Val365Glu | |
| ENST00000218104.5:c.1094T>A | ENSP00000218104.3:p.Val365Glu | |
| ENST00000443684.2:n.97T>A | ||
| NM_000033.3:c.1094T>A | NP_000024.2:p.Val365Glu | |
| XR_938507.1:n.1510T>A | ||
| XR_938507.2:n.1510T>A | ||
| NM_000033.4:c.1094T>A MANE Select | NP_000024.2:p.Val365Glu |