Linked Data
ClinVar Variation Id:
1111175
ClinVar RCV Id:
RCV001437670
dbSNP Id:
rs2148128787
MyVariant Identifiers:
chrX:g.153609248C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380888C>T , CM000685.2:g.154380888C>T | GRCh38 |
| NC_000023.10:g.153609248C>T , CM000685.1:g.153609248C>T | GRCh37 |
| NC_000023.9:g.153262442C>T | NCBI36 |
| NG_008677.1:g.11453C>T , LRG_745:g.11453C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.456C>T | ENSP00000507245.1:p.Arg152= | |
| ENST00000682478.1:n.646C>T | ||
| ENST00000683576.1:n.646C>T | ||
| ENST00000683627.1:c.456C>T | ENSP00000507533.1:p.Arg152= | |
| ENST00000684082.1:c.413C>T | ENSP00000508266.1:n.413C>T | |
| ENST00000684633.1:n.428C>T | ||
| ENST00000684678.1:c.452C>T | ENSP00000507059.1:n.452C>T | |
| ENST00000369842.9:c.456C>T MANE Select | ENSP00000358857.4:p.Arg152= | |
| ENST00000369835.3:c.351C>T | ENSP00000358850.3:p.Arg117= | |
| ENST00000369842.8:c.456C>T | ENSP00000358857.4:p.Arg152= | |
| ENST00000428228.5:c.*361C>T | ENSP00000401081.1:n.*361C>T | |
| ENST00000468294.5:n.495C>T | ||
| ENST00000471965.1:n.245C>T | ||
| ENST00000485261.1:n.725C>T | ||
| ENST00000486738.5:n.893C>T | ||
| ENST00000492448.1:n.439C>T | ||
| NM_000117.2:c.456C>T , LRG_745t1:c.456C>T | NP_000108.1:p.Arg152= | |
| XM_024452349.1:c.462C>T | XP_024308117.1:p.Arg154= | |
| NM_000117.3:c.456C>T MANE Select | NP_000108.1:p.Arg152= |