Revel Score:
ENST00000078429 (MANE Select)
0.855
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3110190C>T , CM000681.2:g.3110190C>T | GRCh38 |
| NC_000019.9:g.3110188C>T , CM000681.1:g.3110188C>T | GRCh37 |
| NC_000019.8:g.3061188C>T | NCBI36 |
| NG_033852.2:g.20781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000078429.9:c.178C>T MANE Select | ENSP00000078429.3:p.Arg60Cys | |
| ENST00000078429.8:c.178C>T | ENSP00000078429.3:p.Arg60Cys | |
| ENST00000586763.1:n.140-3140C>T | ||
| NM_002067.4:c.178C>T | NP_002058.2:p.Arg60Cys | |
| NM_002067.5:c.178C>T MANE Select | NP_002058.2:p.Arg60Cys |