Linked Data
ClinVar Variation Id:
1125180
ClinVar RCV Id:
RCV001456815
dbSNP Id:
rs2148128859
gnomAD v4:
X-154380990-C-T
MyVariant Identifiers:
chrX:g.153609350C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380990C>T , CM000685.2:g.154380990C>T | GRCh38 |
| NC_000023.10:g.153609350C>T , CM000685.1:g.153609350C>T | GRCh37 |
| NC_000023.9:g.153262544C>T | NCBI36 |
| NG_008677.1:g.11555C>T , LRG_745:g.11555C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.558C>T | ENSP00000507245.1:p.Ser186= | |
| ENST00000682478.1:n.748C>T | ||
| ENST00000683576.1:n.748C>T | ||
| ENST00000683627.1:c.558C>T | ENSP00000507533.1:p.Ser186= | |
| ENST00000684082.1:c.515C>T | ENSP00000508266.1:n.515C>T | |
| ENST00000684633.1:n.530C>T | ||
| ENST00000684678.1:c.554C>T | ENSP00000507059.1:n.554C>T | |
| ENST00000369842.9:c.558C>T MANE Select | ENSP00000358857.4:p.Ser186= | |
| ENST00000369835.3:c.453C>T | ENSP00000358850.3:p.Ser151= | |
| ENST00000369842.8:c.558C>T | ENSP00000358857.4:p.Ser186= | |
| ENST00000428228.5:c.*463C>T | ENSP00000401081.1:n.*463C>T | |
| ENST00000471965.1:n.347C>T | ||
| ENST00000486738.5:n.995C>T | ||
| ENST00000492448.1:n.541C>T | ||
| NM_000117.2:c.558C>T , LRG_745t1:c.558C>T | NP_000108.1:p.Ser186= | |
| XM_024452349.1:c.564C>T | XP_024308117.1:p.Ser188= | |
| NM_000117.3:c.558C>T MANE Select | NP_000108.1:p.Ser186= |