Linked Data
ClinVar Variation Id:
1152454
ClinVar RCV Id:
RCV001493763
dbSNP Id:
rs794727309
gnomAD v4:
X-25013455-C-T
MyVariant Identifiers:
chrX:g.25031572C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013455C>T , CM000685.2:g.25013455C>T | GRCh38 |
| NC_000023.10:g.25031572C>T , CM000685.1:g.25031572C>T | GRCh37 |
| NC_000023.9:g.24941493C>T | NCBI36 |
| NG_008281.1:g.7494G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.540G>A MANE Select | ENSP00000368332.4:p.Ala180= | |
| ENST00000379044.4:c.540G>A | ENSP00000368332.4:p.Ala180= | |
| NM_139058.2:c.540G>A | NP_620689.1:p.Ala180= | |
| NM_139058.3:c.540G>A MANE Select | NP_620689.1:p.Ala180= |