Linked Data
dbSNP Id:
rs1466778135
gnomAD v4:
X-154380066-G-A
MyVariant Identifiers:
chrX:g.154380066G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380066G>A , CM000685.2:g.154380066G>A | GRCh38 |
| NC_000023.10:g.153608426G>A , CM000685.1:g.153608426G>A | GRCh37 |
| NC_000023.9:g.153261620G>A | NCBI36 |
| NG_008677.1:g.10631G>A , LRG_745:g.10631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.265+47G>A | ENSP00000507245.1:n.265+47G>A | |
| ENST00000682478.1:n.288G>A | ||
| ENST00000683576.1:n.288G>A | ||
| ENST00000683627.1:c.265+47G>A | ENSP00000507533.1:n.265+47G>A | |
| ENST00000684082.1:c.265+47G>A | ENSP00000508266.1:n.265+47G>A | |
| ENST00000684633.1:n.237+47G>A | ||
| ENST00000684678.1:c.261+47G>A | ENSP00000507059.1:n.261+47G>A | |
| ENST00000369842.9:c.265+47G>A MANE Select | ENSP00000358857.4:n.265+47G>A | |
| ENST00000369835.3:c.160+47G>A | ENSP00000358850.3:n.160+47G>A | |
| ENST00000369842.8:c.265+47G>A | ENSP00000358857.4:n.265+47G>A | |
| ENST00000428228.5:c.*170+47G>A | ENSP00000401081.1:n.*170+47G>A | |
| ENST00000468294.5:n.225+47G>A | ||
| ENST00000485261.1:n.288G>A | ||
| ENST00000486738.5:n.456G>A | ||
| ENST00000492448.1:n.248+47G>A | ||
| ENST00000494443.5:n.369G>A | ||
| NM_000117.2:c.265+47G>A , LRG_745t1:c.265+47G>A | NP_000108.1:n.265+47G>A | |
| XM_024452349.1:c.104G>A | XP_024308117.1:p.Arg35His | |
| NM_000117.3:c.265+47G>A MANE Select | NP_000108.1:n.265+47G>A |