Revel Score:
ENST00000366560 (MANE Select)
0.774
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241500525G>C , CM000663.2:g.241500525G>C | GRCh38 |
| NC_000001.10:g.241663825G>C , CM000663.1:g.241663825G>C | GRCh37 |
| NC_000001.9:g.239730448G>C | NCBI36 |
| NG_012338.1:g.24230C>G , LRG_504:g.24230C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1805C>G | ||
| ENST00000682162.1:c.1331C>G | ENSP00000508203.1:n.1331C>G | |
| ENST00000682567.1:n.4702C>G | ||
| ENST00000683521.1:c.1302C>G | ENSP00000506864.1:p.Cys434Trp | |
| ENST00000684161.1:n.2517C>G | ||
| ENST00000684483.1:c.*698C>G | ENSP00000507894.1:n.*698C>G | |
| ENST00000366560.4:c.1302C>G MANE Select | ENSP00000355518.4:p.Cys434Trp | |
| ENST00000366560.3:c.1302C>G | ENSP00000355518.3:p.Cys434Trp | |
| NM_000143.3:c.1302C>G , LRG_504t1:c.1302C>G | NP_000134.2:p.Cys434Trp | |
| XM_011544132.1:c.1074C>G | XP_011542434.1:p.Cys358Trp | |
| XM_011544132.2:c.1074C>G | XP_011542434.1:p.Cys358Trp | |
| NM_000143.4:c.1302C>G MANE Select | NP_000134.2:p.Cys434Trp |