Linked Data
ClinVar Variation Id:
1444381
ClinVar RCV Id:
RCV001955889
dbSNP Id:
rs1687176905
gnomAD v4:
1-92837539-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92837539T>C , CM000663.2:g.92837539T>C | GRCh38 |
| NC_000001.10:g.93303096T>C , CM000663.1:g.93303096T>C | GRCh37 |
| NC_000001.9:g.93075684T>C | NCBI36 |
| NG_011779.1:g.10503T>C | |
| NG_033051.1:g.128984A>G | |
| NG_011779.2:g.10554T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.611T>C (RPL5) MANE Select | ENSP00000359345.2:p.Val204Ala | |
| ENST00000645119.1:c.324+2626T>C (RPL5) | ENSP00000493811.1:n.324+2626T>C | |
| ENST00000645300.1:c.461T>C (RPL5) | ENSP00000495589.1:p.Val154Ala | |
| ENST00000645908.1:n.345T>C (RPL5) | ||
| ENST00000370321.7:c.611T>C (RPL5) | ENSP00000359345.2:p.Val204Ala | |
| ENST00000497519.1:n.930T>C (RPL5) | ||
| ENST00000615519.4:c.475-4505A>G (DIPK1A) | ENSP00000483279.1:n.475-4505A>G | |
| NM_000969.3:c.611T>C (RPL5) | NP_000960.2:p.Val204Ala | |
| NM_001252273.1:c.475-4505A>G (DIPK1A) | NP_001239202.1:n.475-4505A>G | |
| NM_000969.5:c.611T>C (RPL5) MANE Select | NP_000960.2:p.Val204Ala | |
| NR_146333.1:n.670T>C (RPL5) | ||
| NM_001252273.2:c.475-4505A>G (DIPK1A) | NP_001239202.1:n.475-4505A>G |