Revel Score:
ENST00000244043 (MANE Select)
0.062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49547864A>C , CM000682.2:g.49547864A>C | GRCh38 |
| NC_000020.10:g.48164401A>C , CM000682.1:g.48164401A>C | GRCh37 |
| NC_000020.9:g.47597808A>C | NCBI36 |
| NG_007940.1:g.25307T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244043.5:c.354T>G MANE Select | ENSP00000244043.3:p.Ser118Arg | |
| ENST00000244043.4:c.354T>G | ENSP00000244043.3:p.Ser118Arg | |
| ENST00000478971.1:n.198+2202T>G | ||
| NM_000961.3:c.354T>G | NP_000952.1:p.Ser118Arg | |
| NM_000961.4:c.354T>G MANE Select | NP_000952.1:p.Ser118Arg |