Linked Data
ClinVar Variation Id:
2923225
ClinVar RCV Id:
RCV003780343
gnomAD v4:
X-25010284-C-A
MyVariant Identifiers:
chrX:g.25028401C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010284C>A , CM000685.2:g.25010284C>A | GRCh38 |
| NC_000023.10:g.25028401C>A , CM000685.1:g.25028401C>A | GRCh37 |
| NC_000023.9:g.24938322C>A | NCBI36 |
| NG_008281.1:g.10665G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1095G>T MANE Select | ENSP00000368332.4:p.Leu365= | |
| ENST00000379044.4:c.1095G>T | ENSP00000368332.4:p.Leu365= | |
| NM_139058.2:c.1095G>T | NP_620689.1:p.Leu365= | |
| NM_139058.3:c.1095G>T MANE Select | NP_620689.1:p.Leu365= |