Linked Data
ClinVar Variation Id:
417764
ClinVar RCV Id:
RCV000477697
dbSNP Id:
rs1060505035
PubMed:
PMID:28257692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.82276183A>T , CM000667.2:g.82276183A>T | GRCh38 |
| NC_000005.9:g.81572002A>T , CM000667.1:g.81572002A>T | GRCh37 |
| NC_000005.8:g.81607758A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296674.13:c.358T>A (RPS23) MANE Select | ENSP00000296674.8:p.Phe120Ile | |
| ENST00000651545.1:c.358T>A (RPS23) | ENSP00000498621.1:p.Phe120Ile | |
| ENST00000296674.12:c.358T>A (RPS23) | ENSP00000296674.8:p.Phe120Ile | |
| ENST00000503605.1:n.567T>A (RPS23) | ||
| ENST00000504293.5:n.453T>A (RPS23) | ||
| ENST00000507980.1:c.*128T>A (RPS23) | ENSP00000422071.1:n.*128T>A | |
| ENST00000508814.5:n.299A>T (ATG10) | ||
| ENST00000510019.5:c.233-49T>A (RPS23) | ENSP00000425833.1:n.233-49T>A | |
| ENST00000510210.5:c.358T>A (RPS23) | ENSP00000427043.1:p.Phe120Ile | |
| ENST00000512493.5:c.358T>A (RPS23) | ENSP00000425865.1:p.Phe120Ile | |
| ENST00000514253.2:n.230A>T (ATG10) | ||
| NM_001025.4:c.358T>A (RPS23) | NP_001016.1:p.Phe120Ile | |
| NM_001025.5:c.358T>A (RPS23) MANE Select | NP_001016.1:p.Phe120Ile |