Revel Score:
ENST00000206765 (MANE Select)
0.499
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24262228G>C , CM000676.2:g.24262228G>C | GRCh38 |
| NC_000014.8:g.24731434G>C , CM000676.1:g.24731434G>C | GRCh37 |
| NC_000014.7:g.23801274G>C | NCBI36 |
| NG_007150.1:g.5939C>G | |
| NG_007150.2:g.5939C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.125C>G MANE Select | ENSP00000206765.6:p.Ser42Cys | |
| ENST00000206765.10:c.125C>G | ENSP00000206765.6:p.Ser42Cys | |
| ENST00000544573.5:c.-130C>G | ENSP00000439446.1:n.-130C>G | |
| ENST00000558074.1:c.125C>G | ENSP00000453840.1:p.Ser42Cys | |
| ENST00000560226.1:c.125C>G | ENSP00000454070.1:p.Ser42Cys | |
| ENST00000560443.1:c.125C>G | ENSP00000452822.1:p.Ser42Cys | |
| ENST00000560478.1:c.125C>G | ENSP00000453234.1:p.Ser42Cys | |
| NM_000359.2:c.125C>G | NP_000350.1:p.Ser42Cys | |
| NM_000359.3:c.125C>G MANE Select | NP_000350.1:p.Ser42Cys |