Revel Score:
ENST00000417088
0.301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321534G>C , CM000681.2:g.8321534G>C | GRCh38 |
| NC_000019.9:g.8386418G>C , CM000681.1:g.8386418G>C | GRCh37 |
| NC_000019.8:g.8292418G>C | NCBI36 |
| NG_028213.1:g.4863C>G | |
| NG_028213.2:g.4863C>G | |
| NG_050637.1:g.5035G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600659.3:c.4G>C (RPS28) MANE Select | ENSP00000472469.1:p.Asp2His | |
| ENST00000351593.9:c.-87-59530C>G (ELAVL1) | ENSP00000264073.6:n.-87-59530C>G | |
| ENST00000449223.3:n.377G>C (RPS28) | ||
| ENST00000600659.2:c.4G>C (RPS28) | ENSP00000472469.1:p.Asp2His | |
| ENST00000602140.1:n.40G>C (RPS28) | ||
| NM_001031.4:c.4G>C (RPS28) | NP_001022.1:p.Asp2His | |
| NM_001031.5:c.4G>C (RPS28) MANE Select | NP_001022.1:p.Asp2His |