Revel Score:
ENST00000357578 (MANE Select)
0.862
ENST00000546278
0.862
ENST00000491546
0.862
ENST00000348925
0.862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24504871G>T , CM000668.2:g.24504871G>T | GRCh38 |
| NC_000006.11:g.24505099G>T , CM000668.1:g.24505099G>T | GRCh37 |
| NC_000006.10:g.24613078G>T | NCBI36 |
| NG_008161.1:g.14903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.612G>T MANE Select | ENSP00000350191.3:p.Trp204Cys | |
| ENST00000672352.1:c.375G>T | ENSP00000500876.1:p.Trp125Cys | |
| ENST00000672557.1:c.530G>T | ||
| ENST00000672652.1:c.533G>T | ||
| ENST00000675422.1:n.1372G>T | ||
| ENST00000348925.2:c.612G>T | ENSP00000314649.3:p.Trp204Cys | |
| ENST00000357578.7:c.612G>T | ENSP00000350191.3:p.Trp204Cys | |
| ENST00000491546.5:c.528G>T | ENSP00000417687.1:p.Trp176Cys | |
| NM_001080.3:c.612G>T MANE Select | NP_001071.1:p.Trp204Cys | |
| NM_170740.1:c.612G>T | NP_733936.1:p.Trp204Cys | |
| NM_001368954.1:c.612G>T | NP_001355883.1:p.Trp204Cys |