Linked Data
ClinVar Variation Id:
1103896
ClinVar RCV Id:
RCV001427720
dbSNP Id:
rs2148397902
gnomAD v4:
X-153740596-C-T
MyVariant Identifiers:
chrX:g.153006050C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740596C>T , CM000685.2:g.153740596C>T | GRCh38 |
| NC_000023.10:g.153006050C>T , CM000685.1:g.153006050C>T | GRCh37 |
| NC_000023.9:g.152659244C>T | NCBI36 |
| NG_009022.2:g.20729C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1657C>T MANE Select | ENSP00000218104.3:p.Leu553= | |
| ENST00000218104.5:c.1657C>T | ENSP00000218104.3:p.Leu553= | |
| ENST00000443684.2:n.660C>T | ||
| NM_000033.3:c.1657C>T | NP_000024.2:p.Leu553= | |
| XR_938507.1:n.2129C>T | ||
| XR_938507.2:n.2129C>T | ||
| NM_000033.4:c.1657C>T MANE Select | NP_000024.2:p.Leu553= |