Linked Data
ClinVar Variation Id:
100639
ClinVar RCV Id:
RCV000087039
dbSNP Id:
rs587777118
PubMed:
PMID:23718193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92837592C>T , CM000663.2:g.92837592C>T | GRCh38 |
| NC_000001.10:g.93303149C>T , CM000663.1:g.93303149C>T | GRCh37 |
| NC_000001.9:g.93075737C>T | NCBI36 |
| NG_011779.1:g.10556C>T | |
| NG_033051.1:g.128931G>A | |
| NG_011779.2:g.10607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.664C>T (RPL5) MANE Select | ENSP00000359345.2:p.Gln222Ter | |
| ENST00000645119.1:c.324+2679C>T (RPL5) | ENSP00000493811.1:n.324+2679C>T | |
| ENST00000645300.1:c.514C>T (RPL5) | ENSP00000495589.1:p.Gln172Ter | |
| ENST00000645908.1:n.398C>T (RPL5) | ||
| ENST00000370321.7:c.664C>T (RPL5) | ENSP00000359345.2:p.Gln222Ter | |
| ENST00000497519.1:n.983C>T (RPL5) | ||
| ENST00000615519.4:c.475-4558G>A (DIPK1A) | ENSP00000483279.1:n.475-4558G>A | |
| NM_000969.3:c.664C>T (RPL5) | NP_000960.2:p.Gln222Ter | |
| NM_001252273.1:c.475-4558G>A (DIPK1A) | NP_001239202.1:n.475-4558G>A | |
| NM_000969.5:c.664C>T (RPL5) MANE Select | NP_000960.2:p.Gln222Ter | |
| NR_146333.1:n.723C>T (RPL5) | ||
| NM_001252273.2:c.475-4558G>A (DIPK1A) | NP_001239202.1:n.475-4558G>A |