ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00082636 (AMR)
Genomes Max Group AF
0.00021482 (AMR)
Exomes Max Group AF
0.00097003 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92836268A>G , CM000663.2:g.92836268A>G | GRCh38 |
| NC_000001.10:g.93301825A>G , CM000663.1:g.93301825A>G | GRCh37 |
| NC_000001.9:g.93074413A>G | NCBI36 |
| NG_011779.1:g.9232A>G | |
| NG_033051.1:g.130255T>C | |
| NG_011779.2:g.9283A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.403A>G (RPL5) MANE Select | ENSP00000359345.2:p.Ile135Val | |
| ENST00000645119.1:c.324+1355A>G (RPL5) | ENSP00000493811.1:n.324+1355A>G | |
| ENST00000645300.1:c.253A>G (RPL5) | ENSP00000495589.1:p.Ile85Val | |
| ENST00000645908.1:n.137A>G (RPL5) | ||
| ENST00000315741.5:c.253A>G (RPL5) | ENSP00000359338.2:p.Ile85Val | |
| ENST00000370321.7:c.403A>G (RPL5) | ENSP00000359345.2:p.Ile135Val | |
| ENST00000461952.1:n.1113A>G (RPL5) | ||
| ENST00000470843.5:c.*365A>G (RPL5) | ENSP00000473675.1:n.*365A>G | |
| ENST00000615519.4:c.475-3234T>C (DIPK1A) | ENSP00000483279.1:n.475-3234T>C | |
| NM_000969.3:c.403A>G (RPL5) | NP_000960.2:p.Ile135Val | |
| NM_001252273.1:c.475-3234T>C (DIPK1A) | NP_001239202.1:n.475-3234T>C | |
| NM_000969.5:c.403A>G (RPL5) MANE Select | NP_000960.2:p.Ile135Val | |
| NR_146333.1:n.462A>G (RPL5) | ||
| NM_001252273.2:c.475-3234T>C (DIPK1A) | NP_001239202.1:n.475-3234T>C |