Linked Data
dbSNP Id:
rs1382344248
gnomAD v3:
X-153740889-T-A
gnomAD v4:
X-153740889-T-A
MyVariant Identifiers:
chrX:g.153740889T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740889T>A , CM000685.2:g.153740889T>A | GRCh38 |
| NC_000023.10:g.153006343T>A , CM000685.1:g.153006343T>A | GRCh37 |
| NC_000023.9:g.152659537T>A | NCBI36 |
| NG_009022.2:g.21022T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1780+170T>A MANE Select | ENSP00000218104.3:n.1780+170T>A | |
| ENST00000218104.5:c.1780+170T>A | ENSP00000218104.3:n.1780+170T>A | |
| NM_000033.3:c.1780+170T>A | NP_000024.2:n.1780+170T>A | |
| XR_938507.1:n.2252+170T>A | ||
| XR_938507.2:n.2252+170T>A | ||
| NM_000033.4:c.1780+170T>A MANE Select | NP_000024.2:n.1780+170T>A |