Linked Data
dbSNP Id:
rs756433834
ExAC:
5:81572242 T / C
gnomAD v2:
5-81572242-T-C
gnomAD v3:
5-82276423-T-C
gnomAD v4:
5-82276423-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.82276423T>C , CM000667.2:g.82276423T>C | GRCh38 |
| NC_000005.9:g.81572242T>C , CM000667.1:g.81572242T>C | GRCh37 |
| NC_000005.8:g.81607998T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296674.13:c.260A>G (RPS23) MANE Select | ENSP00000296674.8:p.Asn87Ser | |
| ENST00000651545.1:c.260A>G (RPS23) | ENSP00000498621.1:p.Asn87Ser | |
| ENST00000296674.12:c.260A>G (RPS23) | ENSP00000296674.8:p.Asn87Ser | |
| ENST00000503605.1:n.469A>G (RPS23) | ||
| ENST00000504293.5:n.355A>G (RPS23) | ||
| ENST00000507980.1:c.260A>G (RPS23) | ENSP00000422071.1:p.Asn87Ser | |
| ENST00000510019.5:c.232+28A>G (RPS23) | ENSP00000425833.1:n.232+28A>G | |
| ENST00000510210.5:c.260A>G (RPS23) | ENSP00000427043.1:p.Asn87Ser | |
| ENST00000512493.5:c.260A>G (RPS23) | ENSP00000425865.1:p.Asn87Ser | |
| ENST00000514253.2:n.470T>C (ATG10) | ||
| NM_001025.4:c.260A>G (RPS23) | NP_001016.1:p.Asn87Ser | |
| NM_001025.5:c.260A>G (RPS23) MANE Select | NP_001016.1:p.Asn87Ser |