Linked Data
dbSNP Id:
rs1169948591
gnomAD v4:
X-63785327-C-A
MyVariant Identifiers:
chrX:g.63785327C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63785327C>A , CM000685.2:g.63785327C>A | GRCh38 |
| NC_000023.10:g.63005207C>A , CM000685.1:g.63005207C>A | GRCh37 |
| NC_000023.9:g.62921932C>A | NCBI36 |
| NG_016975.1:g.5220G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374878.5:c.-182G>T | ENSP00000364012.2:n.-182G>T | |
| ENST00000437457.6:c.-182G>T | ENSP00000399994.3:n.-182G>T | |
| ENST00000623417.3:c.-118+10189G>T | ENSP00000485083.1:n.-118+10189G>T | |
| ENST00000623517.3:c.-182G>T | ENSP00000485369.1:n.-182G>T | |
| NM_001173479.1:c.-182G>T | NP_001166950.1:n.-182G>T | |
| XM_005262249.1:c.-182G>T | XP_005262306.1:n.-182G>T | |
| NM_001330495.1:c.-343G>T | NP_001317424.1:n.-343G>T | |
| NM_001353921.1:c.-182G>T | NP_001340850.1:n.-182G>T | |
| NM_001353922.1:c.-182G>T | NP_001340851.1:n.-182G>T | |
| XM_017029378.2:c.-182G>T | XP_016884867.1:n.-182G>T |