Revel Score:
ENST00000366930 (MANE Select)
0.795
ENST00000366929
0.795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218441257C>G , CM000663.2:g.218441257C>G | GRCh38 |
| NC_000001.10:g.218614599C>G , CM000663.1:g.218614599C>G | GRCh37 |
| NC_000001.9:g.216681222C>G | NCBI36 |
| NG_027721.1:g.100924C>G | |
| NG_027721.2:g.100924C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.1140C>G MANE Select | ENSP00000355897.4:p.Cys380Trp | |
| ENST00000366929.4:c.1224C>G | ENSP00000355896.4:p.Cys408Trp | |
| ENST00000366930.8:c.1140C>G | ENSP00000355897.4:p.Cys380Trp | |
| ENST00000479322.1:n.624C>G | ||
| NM_001135599.2:c.1224C>G | NP_001129071.1:p.Cys408Trp | |
| NM_003238.3:c.1140C>G | NP_003229.1:p.Cys380Trp | |
| NM_001135599.3:c.1224C>G | NP_001129071.1:p.Cys408Trp | |
| NM_003238.4:c.1140C>G | NP_003229.1:p.Cys380Trp | |
| NR_138148.1:n.2443C>G | ||
| NR_138149.1:n.2527C>G | ||
| NM_003238.5:c.1140C>G | NP_003229.1:p.Cys380Trp | |
| NM_003238.6:c.1140C>G MANE Select | NP_003229.1:p.Cys380Trp | |
| NM_001135599.4:c.1224C>G | NP_001129071.1:p.Cys408Trp | |
| NR_138148.2:n.2391C>G | ||
| NR_138149.2:n.2475C>G |