Linked Data
dbSNP Id:
rs1219511644
gnomAD v2:
5-81572243-T-C
gnomAD v3:
5-82276424-T-C
gnomAD v4:
5-82276424-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.82276424T>C , CM000667.2:g.82276424T>C | GRCh38 |
| NC_000005.9:g.81572243T>C , CM000667.1:g.81572243T>C | GRCh37 |
| NC_000005.8:g.81607999T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296674.13:c.259A>G (RPS23) MANE Select | ENSP00000296674.8:p.Asn87Asp | |
| ENST00000651545.1:c.259A>G (RPS23) | ENSP00000498621.1:p.Asn87Asp | |
| ENST00000296674.12:c.259A>G (RPS23) | ENSP00000296674.8:p.Asn87Asp | |
| ENST00000503605.1:n.468A>G (RPS23) | ||
| ENST00000504293.5:n.354A>G (RPS23) | ||
| ENST00000507980.1:c.259A>G (RPS23) | ENSP00000422071.1:p.Asn87Asp | |
| ENST00000510019.5:c.232+27A>G (RPS23) | ENSP00000425833.1:n.232+27A>G | |
| ENST00000510210.5:c.259A>G (RPS23) | ENSP00000427043.1:p.Asn87Asp | |
| ENST00000512493.5:c.259A>G (RPS23) | ENSP00000425865.1:p.Asn87Asp | |
| ENST00000514253.2:n.471T>C (ATG10) | ||
| NM_001025.4:c.259A>G (RPS23) | NP_001016.1:p.Asn87Asp | |
| NM_001025.5:c.259A>G (RPS23) MANE Select | NP_001016.1:p.Asn87Asp |