Revel Score:
ENST00000417088
0.487
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321537A>C , CM000681.2:g.8321537A>C | GRCh38 |
| NC_000019.9:g.8386421A>C , CM000681.1:g.8386421A>C | GRCh37 |
| NC_000019.8:g.8292421A>C | NCBI36 |
| NG_028213.1:g.4860T>G | |
| NG_028213.2:g.4860T>G | |
| NG_050637.1:g.5038A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600659.3:c.7A>C (RPS28) MANE Select | ENSP00000472469.1:p.Thr3Pro | |
| ENST00000351593.9:c.-87-59533T>G (ELAVL1) | ENSP00000264073.6:n.-87-59533T>G | |
| ENST00000449223.3:n.380A>C (RPS28) | ||
| ENST00000600659.2:c.7A>C (RPS28) | ENSP00000472469.1:p.Thr3Pro | |
| ENST00000602140.1:n.43A>C (RPS28) | ||
| NM_001031.4:c.7A>C (RPS28) | NP_001022.1:p.Thr3Pro | |
| NM_001031.5:c.7A>C (RPS28) MANE Select | NP_001022.1:p.Thr3Pro |