Linked Data
ClinVar Variation Id:
2940571
ClinVar RCV Id:
RCV003799881
dbSNP Id:
rs2048709096
gnomAD v3:
X-25013137-G-A
gnomAD v4:
X-25013137-G-A
MyVariant Identifiers:
chrX:g.25031254G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013137G>A , CM000685.2:g.25013137G>A | GRCh38 |
| NC_000023.10:g.25031254G>A , CM000685.1:g.25031254G>A | GRCh37 |
| NC_000023.9:g.24941175G>A | NCBI36 |
| NG_008281.1:g.7812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.858C>T MANE Select | ENSP00000368332.4:p.Gly286= | |
| ENST00000379044.4:c.858C>T | ENSP00000368332.4:p.Gly286= | |
| NM_139058.2:c.858C>T | NP_620689.1:p.Gly286= | |
| NM_139058.3:c.858C>T MANE Select | NP_620689.1:p.Gly286= |