Linked Data
ClinVar Variation Id:
187848
ClinVar RCV Id:
RCV000167573
dbSNP Id:
rs786203997
gnomAD v4:
19-8321531-A-G
PubMed:
PMID:24942156
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321531A>G , CM000681.2:g.8321531A>G | GRCh38 |
| NC_000019.9:g.8386415A>G , CM000681.1:g.8386415A>G | GRCh37 |
| NC_000019.8:g.8292415A>G | NCBI36 |
| NG_028213.1:g.4866T>C | |
| NG_028213.2:g.4866T>C | |
| NG_050637.1:g.5032A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600659.3:c.1A>G (RPS28) MANE Select | ENSP00000472469.1:p.Met1Val | |
| ENST00000351593.9:c.-87-59527T>C (ELAVL1) | ENSP00000264073.6:n.-87-59527T>C | |
| ENST00000449223.3:n.374A>G (RPS28) | ||
| ENST00000600659.2:c.1A>G (RPS28) | ENSP00000472469.1:p.Met1Val | |
| ENST00000602140.1:n.37A>G (RPS28) | ||
| NM_001031.4:c.1A>G (RPS28) | NP_001022.1:p.Met1Val | |
| NM_001031.5:c.1A>G (RPS28) MANE Select | NP_001022.1:p.Met1Val |