Linked Data
ClinVar Variation Id:
2964243
ClinVar RCV Id:
RCV003820345
dbSNP Id:
rs951717059
gnomAD v4:
X-154380030-G-T
MyVariant Identifiers:
chrX:g.154380030G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380030G>T , CM000685.2:g.154380030G>T | GRCh38 |
| NC_000023.10:g.153608390G>T , CM000685.1:g.153608390G>T | GRCh37 |
| NC_000023.9:g.153261584G>T | NCBI36 |
| NG_008677.1:g.10595G>T , LRG_745:g.10595G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.265+11G>T | ENSP00000507245.1:n.265+11G>T | |
| ENST00000682478.1:n.252G>T | ||
| ENST00000683576.1:n.252G>T | ||
| ENST00000683627.1:c.265+11G>T | ENSP00000507533.1:n.265+11G>T | |
| ENST00000684082.1:c.265+11G>T | ENSP00000508266.1:n.265+11G>T | |
| ENST00000684633.1:n.237+11G>T | ||
| ENST00000684678.1:c.261+11G>T | ENSP00000507059.1:n.261+11G>T | |
| ENST00000369842.9:c.265+11G>T MANE Select | ENSP00000358857.4:n.265+11G>T | |
| ENST00000369835.3:c.160+11G>T | ENSP00000358850.3:n.160+11G>T | |
| ENST00000369842.8:c.265+11G>T | ENSP00000358857.4:n.265+11G>T | |
| ENST00000428228.5:c.*170+11G>T | ENSP00000401081.1:n.*170+11G>T | |
| ENST00000468294.5:n.225+11G>T | ||
| ENST00000485261.1:n.252G>T | ||
| ENST00000486738.5:n.420G>T | ||
| ENST00000492448.1:n.248+11G>T | ||
| ENST00000494443.5:n.333G>T | ||
| NM_000117.2:c.265+11G>T , LRG_745t1:c.265+11G>T | NP_000108.1:n.265+11G>T | |
| XM_024452349.1:c.68G>T | XP_024308117.1:p.Gly23Val | |
| NM_000117.3:c.265+11G>T MANE Select | NP_000108.1:n.265+11G>T |