Linked Data
ClinVar Variation Id:
6180
dbSNP Id:
rs121434406
ExAC:
1:93301840 G / A
gnomAD v2:
1-93301840-G-A
gnomAD v3:
1-92836283-G-A
gnomAD v4:
1-92836283-G-A
PubMed:
PMID:19061985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92836283G>A , CM000663.2:g.92836283G>A | GRCh38 |
| NC_000001.10:g.93301840G>A , CM000663.1:g.93301840G>A | GRCh37 |
| NC_000001.9:g.93074428G>A | NCBI36 |
| NG_011779.1:g.9247G>A | |
| NG_033051.1:g.130240C>T | |
| NG_011779.2:g.9298G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370321.8:c.418G>A (RPL5) MANE Select | ENSP00000359345.2:p.Gly140Ser | |
| ENST00000645119.1:c.324+1370G>A (RPL5) | ENSP00000493811.1:n.324+1370G>A | |
| ENST00000645300.1:c.268G>A (RPL5) | ENSP00000495589.1:p.Gly90Ser | |
| ENST00000645908.1:n.152G>A (RPL5) | ||
| ENST00000315741.5:c.268G>A (RPL5) | ENSP00000359338.2:p.Gly90Ser | |
| ENST00000370321.7:c.418G>A (RPL5) | ENSP00000359345.2:p.Gly140Ser | |
| ENST00000470843.5:c.*380G>A (RPL5) | ENSP00000473675.1:n.*380G>A | |
| ENST00000615519.4:c.475-3249C>T (DIPK1A) | ENSP00000483279.1:n.475-3249C>T | |
| NM_000969.3:c.418G>A (RPL5) | NP_000960.2:p.Gly140Ser | |
| NM_001252273.1:c.475-3249C>T (DIPK1A) | NP_001239202.1:n.475-3249C>T | |
| NM_000969.5:c.418G>A (RPL5) MANE Select | NP_000960.2:p.Gly140Ser | |
| NR_146333.1:n.477G>A (RPL5) | ||
| NM_001252273.2:c.475-3249C>T (DIPK1A) | NP_001239202.1:n.475-3249C>T |