Linked Data
dbSNP Id:
rs778891633
ExAC:
1:93303060 C / T
gnomAD v2:
1-93303060-C-T
gnomAD v4:
1-92837503-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92837503C>T , CM000663.2:g.92837503C>T | GRCh38 |
| NC_000001.10:g.93303060C>T , CM000663.1:g.93303060C>T | GRCh37 |
| NC_000001.9:g.93075648C>T | NCBI36 |
| NG_011779.1:g.10467C>T | |
| NG_033051.1:g.129020G>A | |
| NG_011779.2:g.10518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.575C>T (RPL5) MANE Select | ENSP00000359345.2:p.Ala192Val | |
| ENST00000645119.1:c.324+2590C>T (RPL5) | ENSP00000493811.1:n.324+2590C>T | |
| ENST00000645300.1:c.425C>T (RPL5) | ENSP00000495589.1:p.Ala142Val | |
| ENST00000645908.1:n.309C>T (RPL5) | ||
| ENST00000370321.7:c.575C>T (RPL5) | ENSP00000359345.2:p.Ala192Val | |
| ENST00000497519.1:n.894C>T (RPL5) | ||
| ENST00000615519.4:c.475-4469G>A (DIPK1A) | ENSP00000483279.1:n.475-4469G>A | |
| NM_000969.3:c.575C>T (RPL5) | NP_000960.2:p.Ala192Val | |
| NM_001252273.1:c.475-4469G>A (DIPK1A) | NP_001239202.1:n.475-4469G>A | |
| NM_000969.5:c.575C>T (RPL5) MANE Select | NP_000960.2:p.Ala192Val | |
| NR_146333.1:n.634C>T (RPL5) | ||
| NM_001252273.2:c.475-4469G>A (DIPK1A) | NP_001239202.1:n.475-4469G>A |