Linked Data
ClinVar Variation Id:
298210
dbSNP Id:
rs145058455
ExAC:
1:93301736 T / G
gnomAD v2:
1-93301736-T-G
gnomAD v3:
1-92836179-T-G
gnomAD v4:
1-92836179-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92836179T>G , CM000663.2:g.92836179T>G | GRCh38 |
| NC_000001.10:g.93301736T>G , CM000663.1:g.93301736T>G | GRCh37 |
| NC_000001.9:g.93074324T>G | NCBI36 |
| NG_011779.1:g.9143T>G | |
| NG_033051.1:g.130344A>C | |
| NG_011779.2:g.9194T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.325-11T>G (RPL5) MANE Select | ENSP00000359345.2:n.325-11T>G | |
| ENST00000645119.1:c.324+1266T>G (RPL5) | ENSP00000493811.1:n.324+1266T>G | |
| ENST00000645300.1:c.175-11T>G (RPL5) | ENSP00000495589.1:n.175-11T>G | |
| ENST00000645908.1:n.59-11T>G (RPL5) | ||
| ENST00000315741.5:c.175-11T>G (RPL5) | ENSP00000359338.2:n.175-11T>G | |
| ENST00000370321.7:c.325-11T>G (RPL5) | ENSP00000359345.2:n.325-11T>G | |
| ENST00000461952.1:n.1035-11T>G (RPL5) | ||
| ENST00000470843.5:c.*287-11T>G (RPL5) | ENSP00000473675.1:n.*287-11T>G | |
| ENST00000615519.4:c.475-3145A>C (DIPK1A) | ENSP00000483279.1:n.475-3145A>C | |
| NM_000969.3:c.325-11T>G (RPL5) | NP_000960.2:n.325-11T>G | |
| NM_001252273.1:c.475-3145A>C (DIPK1A) | NP_001239202.1:n.475-3145A>C | |
| NM_000969.5:c.325-11T>G (RPL5) MANE Select | NP_000960.2:n.325-11T>G | |
| NR_146333.1:n.421-48T>G (RPL5) | ||
| NM_001252273.2:c.475-3145A>C (DIPK1A) | NP_001239202.1:n.475-3145A>C |