Linked Data
ClinVar Variation Id:
298214
ClinVar RCV Id:
RCV002059505
dbSNP Id:
rs376641112
ExAC:
1:93307374 A / G
gnomAD v2:
1-93307374-A-G
gnomAD v3:
1-92841817-A-G
gnomAD v4:
1-92841817-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92841817A>G , CM000663.2:g.92841817A>G | GRCh38 |
| NC_000001.10:g.93307374A>G , CM000663.1:g.93307374A>G | GRCh37 |
| NC_000001.9:g.93079962A>G | NCBI36 |
| NG_011779.1:g.14781A>G | |
| NG_033051.1:g.124706T>C | |
| NG_011779.2:g.14832A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370321.8:c.846A>G (RPL5) MANE Select | ENSP00000359345.2:p.Gln282= | |
| ENST00000644549.1:n.167A>G (RPL5) | ||
| ENST00000645119.1:c.465A>G (RPL5) | ENSP00000493811.1:p.Gln155= | |
| ENST00000645300.1:c.696A>G (RPL5) | ENSP00000495589.1:p.Gln232= | |
| ENST00000370321.7:c.846A>G (RPL5) | ENSP00000359345.2:p.Gln282= | |
| ENST00000497519.1:n.1165A>G (RPL5) | ||
| ENST00000615519.4:c.474+5366T>C (DIPK1A) | ENSP00000483279.1:n.474+5366T>C | |
| NM_000969.3:c.846A>G (RPL5) | NP_000960.2:p.Gln282= | |
| NM_001252273.1:c.474+5366T>C (DIPK1A) | NP_001239202.1:n.474+5366T>C | |
| NM_000969.5:c.846A>G (RPL5) MANE Select | NP_000960.2:p.Gln282= | |
| NR_146333.1:n.905A>G (RPL5) | ||
| NM_001252273.2:c.474+5366T>C (DIPK1A) | NP_001239202.1:n.474+5366T>C |