Revel Score:
ENST00000417088
0.271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321532T>C , CM000681.2:g.8321532T>C | GRCh38 |
| NC_000019.9:g.8386416T>C , CM000681.1:g.8386416T>C | GRCh37 |
| NC_000019.8:g.8292416T>C | NCBI36 |
| NG_028213.1:g.4865A>G | |
| NG_028213.2:g.4865A>G | |
| NG_050637.1:g.5033T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600659.3:c.2T>C (RPS28) MANE Select | ENSP00000472469.1:p.Met1Thr | |
| ENST00000351593.9:c.-87-59528A>G (ELAVL1) | ENSP00000264073.6:n.-87-59528A>G | |
| ENST00000449223.3:n.375T>C (RPS28) | ||
| ENST00000600659.2:c.2T>C (RPS28) | ENSP00000472469.1:p.Met1Thr | |
| ENST00000602140.1:n.38T>C (RPS28) | ||
| NM_001031.4:c.2T>C (RPS28) | NP_001022.1:p.Met1Thr | |
| NM_001031.5:c.2T>C (RPS28) MANE Select | NP_001022.1:p.Met1Thr |