Linked Data
dbSNP Id:
rs1472079011
gnomAD v3:
X-152862892-T-G
gnomAD v4:
X-152862892-T-G
MyVariant Identifiers:
chrX:g.152862892T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152862892T>G , CM000685.2:g.152862892T>G | GRCh38 |
| NC_000023.10:g.152031436T>G , CM000685.1:g.152031436T>G | GRCh37 |
| NC_000023.9:g.151782092T>G | NCBI36 |
| NG_009163.1:g.36926T>G | |
| NG_009163.2:g.36926T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370274.8:c.543+168T>G MANE Select | ENSP00000359297.3:n.543+168T>G | |
| ENST00000370274.7:c.543+168T>G | ENSP00000359297.3:n.543+168T>G | |
| ENST00000432467.1:c.543+168T>G | ENSP00000396266.1:n.543+168T>G | |
| ENST00000440023.5:c.543+168T>G | ENSP00000391854.1:n.543+168T>G | |
| NM_001129765.1:c.543+168T>G | NP_001123237.1:n.543+168T>G | |
| NM_015922.2:c.543+168T>G | NP_057006.1:n.543+168T>G | |
| XM_011531178.1:c.543+168T>G | XP_011529480.1:n.543+168T>G | |
| XM_011531178.2:c.543+168T>G | XP_011529480.1:n.543+168T>G | |
| XM_017029564.1:c.591+168T>G | XP_016885053.1:n.591+168T>G | |
| NM_015922.3:c.543+168T>G MANE Select | NP_057006.1:n.543+168T>G | |
| NM_001129765.2:c.543+168T>G | NP_001123237.1:n.543+168T>G |