Revel Score:
ENST00000371108
0.133
ENST00000263440 (MANE Select)
0.133
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63415881C>G , CM000663.2:g.63415881C>G | GRCh38 |
| NC_000001.10:g.63881552C>G , CM000663.1:g.63881552C>G | GRCh37 |
| NC_000001.9:g.63654140C>G | NCBI36 |
| NG_008925.2:g.53292C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263440.6:c.911C>G MANE Select | ENSP00000263440.5:p.Ser304Cys | |
| ENST00000603108.6:c.*60C>G | ENSP00000473934.2:n.*60C>G | |
| ENST00000647818.1:c.*217C>G | ENSP00000497667.1:n.*217C>G | |
| ENST00000648964.1:c.*640C>G | ENSP00000497828.1:n.*640C>G | |
| ENST00000649570.1:c.*333C>G | ENSP00000497742.1:n.*333C>G | |
| ENST00000650494.1:c.*268C>G | ENSP00000497170.1:n.*268C>G | |
| ENST00000263440.4:c.917C>G | ENSP00000263440.4:p.Ser306Cys | |
| ENST00000371108.8:c.911C>G | ENSP00000360149.4:p.Ser304Cys | |
| ENST00000465969.5:n.500C>G | ||
| ENST00000603108.5:c.835C>G | ENSP00000473934.1:p.Leu279Val | |
| NM_013339.3:c.911C>G | NP_037471.2:p.Ser304Cys | |
| NM_013339.4:c.911C>G MANE Select | NP_037471.2:p.Ser304Cys |