Linked Data
dbSNP Id:
rs2092154034
gnomAD v4:
X-153798121-C-T
MyVariant Identifiers:
chrX:g.153063576C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153798121C>T , CM000685.2:g.153798121C>T | GRCh38 |
| NC_000023.10:g.153063576C>T , CM000685.1:g.153063576C>T | GRCh37 |
| NC_000023.9:g.152716770C>T | NCBI36 |
| NG_041795.1:g.8947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370086.8:c.402C>T MANE Select | ENSP00000359103.3:p.Val134= | |
| ENST00000320857.7:c.402C>T | ENSP00000317331.3:p.Val134= | |
| ENST00000370085.3:c.327C>T | ENSP00000359102.3:p.Val109= | |
| ENST00000370086.7:c.402C>T | ENSP00000359103.3:p.Val134= | |
| ENST00000370087.5:c.402C>T | ENSP00000359104.1:p.Val134= | |
| ENST00000447375.1:n.242C>T | ||
| ENST00000460616.5:n.2110C>T | ||
| ENST00000471880.5:n.605C>T | ||
| ENST00000482902.5:n.2229C>T | ||
| ENST00000485612.5:n.517C>T | ||
| ENST00000486204.5:n.474C>T | ||
| NM_001204526.1:c.435C>T | NP_001191455.1:p.Val145= | |
| NM_001204527.1:c.426C>T | NP_001191456.1:p.Val142= | |
| NM_006280.2:c.402C>T | NP_006271.1:p.Val134= | |
| NR_037927.1:n.747C>T | ||
| XM_011531186.1:c.402C>T | XP_011529488.1:p.Val134= | |
| XM_011531187.1:c.402C>T | XP_011529489.1:p.Val134= | |
| XM_017029756.1:c.213C>T | XP_016885245.1:p.Val71= | |
| XM_017029757.1:c.213C>T | XP_016885246.1:p.Val71= | |
| XM_024452428.1:c.213C>T | XP_024308196.1:p.Val71= | |
| NM_001204527.2:c.426C>T | NP_001191456.1:p.Val142= | |
| NM_006280.3:c.402C>T MANE Select | NP_006271.1:p.Val134= |