Linked Data
ClinVar Variation Id:
2849253
ClinVar RCV Id:
RCV003616739
dbSNP Id:
rs1284533624
gnomAD v3:
1-92837542-C-G
gnomAD v4:
1-92837542-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92837542C>G , CM000663.2:g.92837542C>G | GRCh38 |
| NC_000001.10:g.93303099C>G , CM000663.1:g.93303099C>G | GRCh37 |
| NC_000001.9:g.93075687C>G | NCBI36 |
| NG_011779.1:g.10506C>G | |
| NG_033051.1:g.128981G>C | |
| NG_011779.2:g.10557C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.614C>G (RPL5) MANE Select | ENSP00000359345.2:p.Ala205Gly | |
| ENST00000645119.1:c.324+2629C>G (RPL5) | ENSP00000493811.1:n.324+2629C>G | |
| ENST00000645300.1:c.464C>G (RPL5) | ENSP00000495589.1:p.Ala155Gly | |
| ENST00000645908.1:n.348C>G (RPL5) | ||
| ENST00000370321.7:c.614C>G (RPL5) | ENSP00000359345.2:p.Ala205Gly | |
| ENST00000497519.1:n.933C>G (RPL5) | ||
| ENST00000615519.4:c.475-4508G>C (DIPK1A) | ENSP00000483279.1:n.475-4508G>C | |
| NM_000969.3:c.614C>G (RPL5) | NP_000960.2:p.Ala205Gly | |
| NM_001252273.1:c.475-4508G>C (DIPK1A) | NP_001239202.1:n.475-4508G>C | |
| NM_000969.5:c.614C>G (RPL5) MANE Select | NP_000960.2:p.Ala205Gly | |
| NR_146333.1:n.673C>G (RPL5) | ||
| NM_001252273.2:c.475-4508G>C (DIPK1A) | NP_001239202.1:n.475-4508G>C |