Linked Data
ClinVar Variation Id:
1116023
ClinVar RCV Id:
RCV001444246
dbSNP Id:
rs782515233
gnomAD v4:
X-153736212-G-T
MyVariant Identifiers:
chrX:g.153001666G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736212G>T , CM000685.2:g.153736212G>T | GRCh38 |
| NC_000023.10:g.153001666G>T , CM000685.1:g.153001666G>T | GRCh37 |
| NC_000023.9:g.152654860G>T | NCBI36 |
| NG_009022.2:g.16345G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1182G>T MANE Select | ENSP00000218104.3:p.Ala394= | |
| ENST00000218104.5:c.1182G>T | ENSP00000218104.3:p.Ala394= | |
| ENST00000443684.2:n.185G>T | ||
| NM_000033.3:c.1182G>T | NP_000024.2:p.Ala394= | |
| XR_938507.1:n.1598G>T | ||
| XR_938507.2:n.1598G>T | ||
| NM_000033.4:c.1182G>T MANE Select | NP_000024.2:p.Ala394= |