Linked Data
ClinVar Variation Id:
528342
dbSNP Id:
rs782487174
ExAC:
X:152991460 G / A
gnomAD v2:
X-152991460-G-A
gnomAD v4:
X-153726005-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726005G>A , CM000685.2:g.153726005G>A | GRCh38 |
| NC_000023.10:g.152991460G>A , CM000685.1:g.152991460G>A | GRCh37 |
| NC_000023.9:g.152644654G>A | NCBI36 |
| NG_009022.2:g.6138G>A | |
| NG_023231.1:g.3742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.739G>A MANE Select | ENSP00000218104.3:p.Ala247Thr | |
| ENST00000218104.5:c.739G>A | ENSP00000218104.3:p.Ala247Thr | |
| ENST00000370129.4:c.184G>A | ENSP00000359147.3:p.Ala62Thr | |
| NM_000033.3:c.739G>A | NP_000024.2:p.Ala247Thr | |
| XR_938507.1:n.1155G>A | ||
| XR_938507.2:n.1155G>A | ||
| NM_000033.4:c.739G>A MANE Select | NP_000024.2:p.Ala247Thr |