Revel Score:
ENST00000335295 (MANE Select)
0.872
ENST00000380315
0.872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226797A>C , CM000673.2:g.5226797A>C | GRCh38 |
| NC_000011.9:g.5248027A>C , CM000673.1:g.5248027A>C | GRCh37 |
| NC_000011.8:g.5204603A>C | NCBI36 |
| NG_000007.3:g.70819T>G | |
| NG_059281.1:g.5275T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.95T>G | ENSP00000494175.1:p.Leu32Arg | |
| ENST00000335295.4:c.95T>G MANE Select | ENSP00000333994.3:p.Leu32Arg | |
| ENST00000380315.2:c.95T>G | ENSP00000369671.2:p.Leu32Arg | |
| ENST00000475226.1:n.27T>G | ||
| ENST00000485743.1:n.146T>G | ||
| ENST00000633227.1:c.79T>G | ENSP00000488004.1:p.Cys27Gly | |
| NM_000518.4:c.95T>G | NP_000509.1:p.Leu32Arg | |
| NM_000518.5:c.95T>G MANE Select | NP_000509.1:p.Leu32Arg |