Revel Score:
ENST00000417088
0.074
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003784 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00003755 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321540A>G , CM000681.2:g.8321540A>G | GRCh38 |
| NC_000019.9:g.8386424A>G , CM000681.1:g.8386424A>G | GRCh37 |
| NC_000019.8:g.8292424A>G | NCBI36 |
| NG_028213.1:g.4857T>C | |
| NG_028213.2:g.4857T>C | |
| NG_050637.1:g.5041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600659.3:c.10A>G (RPS28) MANE Select | ENSP00000472469.1:p.Ser4Gly | |
| ENST00000351593.9:c.-87-59536T>C (ELAVL1) | ENSP00000264073.6:n.-87-59536T>C | |
| ENST00000449223.3:n.383A>G (RPS28) | ||
| ENST00000600659.2:c.10A>G (RPS28) | ENSP00000472469.1:p.Ser4Gly | |
| ENST00000602140.1:n.46A>G (RPS28) | ||
| NM_001031.4:c.10A>G (RPS28) | NP_001022.1:p.Ser4Gly | |
| NM_001031.5:c.10A>G (RPS28) MANE Select | NP_001022.1:p.Ser4Gly |