Linked Data
ClinVar Variation Id:
763015
ClinVar RCV Id:
RCV001437730
dbSNP Id:
rs1299202405
gnomAD v4:
X-25013716-C-T
MyVariant Identifiers:
chrX:g.25031833C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013716C>T , CM000685.2:g.25013716C>T | GRCh38 |
| NC_000023.10:g.25031833C>T , CM000685.1:g.25031833C>T | GRCh37 |
| NC_000023.9:g.24941754C>T | NCBI36 |
| NG_008281.1:g.7233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.279G>A MANE Select | ENSP00000368332.4:p.Gly93= | |
| ENST00000379044.4:c.279G>A | ENSP00000368332.4:p.Gly93= | |
| NM_139058.2:c.279G>A | NP_620689.1:p.Gly93= | |
| NM_139058.3:c.279G>A MANE Select | NP_620689.1:p.Gly93= |