Revel Score:
ENST00000335295 (MANE Select)
0.802
ENST00000380315
0.802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226767A>C , CM000673.2:g.5226767A>C | GRCh38 |
| NC_000011.9:g.5247997A>C , CM000673.1:g.5247997A>C | GRCh37 |
| NC_000011.8:g.5204573A>C | NCBI36 |
| NG_000007.3:g.70849T>G | |
| NG_059281.1:g.5305T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.125T>G | ENSP00000494175.1:p.Phe42Cys | |
| ENST00000335295.4:c.125T>G MANE Select | ENSP00000333994.3:p.Phe42Cys | |
| ENST00000380315.2:c.125T>G | ENSP00000369671.2:p.Phe42Cys | |
| ENST00000475226.1:n.57T>G | ||
| ENST00000485743.1:n.176T>G | ||
| ENST00000633227.1:c.109T>G | ENSP00000488004.1:p.Ser37Ala | |
| NM_000518.4:c.125T>G | NP_000509.1:p.Phe42Cys | |
| NM_000518.5:c.125T>G MANE Select | NP_000509.1:p.Phe42Cys |