Linked Data
dbSNP Id:
rs1439896266
gnomAD v2:
5-81572223-A-G
gnomAD v3:
5-82276404-A-G
gnomAD v4:
5-82276404-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.82276404A>G , CM000667.2:g.82276404A>G | GRCh38 |
| NC_000005.9:g.81572223A>G , CM000667.1:g.81572223A>G | GRCh37 |
| NC_000005.8:g.81607979A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296674.13:c.279T>C (RPS23) MANE Select | ENSP00000296674.8:p.Phe93= | |
| ENST00000651545.1:c.279T>C (RPS23) | ENSP00000498621.1:p.Phe93= | |
| ENST00000296674.12:c.279T>C (RPS23) | ENSP00000296674.8:p.Phe93= | |
| ENST00000503605.1:n.488T>C (RPS23) | ||
| ENST00000504293.5:n.374T>C (RPS23) | ||
| ENST00000507980.1:c.279T>C (RPS23) | ENSP00000422071.1:p.Phe93= | |
| ENST00000510019.5:c.232+47T>C (RPS23) | ENSP00000425833.1:n.232+47T>C | |
| ENST00000510210.5:c.279T>C (RPS23) | ENSP00000427043.1:p.Phe93= | |
| ENST00000512493.5:c.279T>C (RPS23) | ENSP00000425865.1:p.Phe93= | |
| ENST00000514253.2:n.451A>G (ATG10) | ||
| NM_001025.4:c.279T>C (RPS23) | NP_001016.1:p.Phe93= | |
| NM_001025.5:c.279T>C (RPS23) MANE Select | NP_001016.1:p.Phe93= |