Revel Score:
ENST00000417088
0.365
gnomAD v4:
Joint Max Group AF
0.00000759 (EAS)
Exomes Max Group AF
0.0000086 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321533G>T , CM000681.2:g.8321533G>T | GRCh38 |
| NC_000019.9:g.8386417G>T , CM000681.1:g.8386417G>T | GRCh37 |
| NC_000019.8:g.8292417G>T | NCBI36 |
| NG_028213.1:g.4864C>A | |
| NG_028213.2:g.4864C>A | |
| NG_050637.1:g.5034G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600659.3:c.3G>T (RPS28) MANE Select | ENSP00000472469.1:p.Met1Ile | |
| ENST00000351593.9:c.-87-59529C>A (ELAVL1) | ENSP00000264073.6:n.-87-59529C>A | |
| ENST00000449223.3:n.376G>T (RPS28) | ||
| ENST00000600659.2:c.3G>T (RPS28) | ENSP00000472469.1:p.Met1Ile | |
| ENST00000602140.1:n.39G>T (RPS28) | ||
| NM_001031.4:c.3G>T (RPS28) | NP_001022.1:p.Met1Ile | |
| NM_001031.5:c.3G>T (RPS28) MANE Select | NP_001022.1:p.Met1Ile |