Linked Data
ClinVar Variation Id:
1628834
ClinVar RCV Id:
RCV002116339
dbSNP Id:
rs5921978
gnomAD v4:
X-83509032-G-A
MyVariant Identifiers:
chrX:g.83509032G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509032G>A , CM000685.2:g.83509032G>A | GRCh38 |
| NG_009936.2:g.5772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.708G>A MANE Select | ENSP00000495996.1:p.Glu236= | |
| ENST00000373200.4:c.708G>A | ENSP00000362296.2:p.Glu236= | |
| NM_000307.4:c.708G>A | NP_000298.3:p.Glu236= | |
| NM_000307.5:c.708G>A MANE Select | NP_000298.3:p.Glu236= |