Linked Data
ClinVar Variation Id:
991379
ClinVar RCV Id:
RCV001279586
dbSNP Id:
rs782066367
ExAC:
X:153001834 C / A
gnomAD v2:
X-153001834-C-A
gnomAD v3:
X-153736380-C-A
gnomAD v4:
X-153736380-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736380C>A , CM000685.2:g.153736380C>A | GRCh38 |
| NC_000023.10:g.153001834C>A , CM000685.1:g.153001834C>A | GRCh37 |
| NC_000023.9:g.152655028C>A | NCBI36 |
| NG_009022.2:g.16513C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1260C>A MANE Select | ENSP00000218104.3:p.His420Gln | |
| ENST00000218104.5:c.1260C>A | ENSP00000218104.3:p.His420Gln | |
| ENST00000443684.2:n.263C>A | ||
| NM_000033.3:c.1260C>A | NP_000024.2:p.His420Gln | |
| XR_938507.1:n.1676C>A | ||
| XR_938507.2:n.1676C>A | ||
| NM_000033.4:c.1260C>A MANE Select | NP_000024.2:p.His420Gln |