gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000592 (AMR)
Exomes Max Group AF
0.00000813 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321539C>A , CM000681.2:g.8321539C>A | GRCh38 |
| NC_000019.9:g.8386423C>A , CM000681.1:g.8386423C>A | GRCh37 |
| NC_000019.8:g.8292423C>A | NCBI36 |
| NG_028213.1:g.4858G>T | |
| NG_028213.2:g.4858G>T | |
| NG_050637.1:g.5040C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600659.3:c.9C>A (RPS28) MANE Select | ENSP00000472469.1:p.Thr3= | |
| ENST00000351593.9:c.-87-59535G>T (ELAVL1) | ENSP00000264073.6:n.-87-59535G>T | |
| ENST00000449223.3:n.382C>A (RPS28) | ||
| ENST00000600659.2:c.9C>A (RPS28) | ENSP00000472469.1:p.Thr3= | |
| ENST00000602140.1:n.45C>A (RPS28) | ||
| NM_001031.4:c.9C>A (RPS28) | NP_001022.1:p.Thr3= | |
| NM_001031.5:c.9C>A (RPS28) MANE Select | NP_001022.1:p.Thr3= |