Revel Score:
ENST00000320580 (MANE Select)
0.637
ENST00000533756
0.637
ENST00000527380
0.637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211218G>T , CM000673.2:g.66211218G>T | GRCh38 |
| NC_000011.9:g.65978689G>T , CM000673.1:g.65978689G>T | GRCh37 |
| NC_000011.8:g.65735265G>T | NCBI36 |
| NG_033900.1:g.145866G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.619G>T MANE Select | ENSP00000316454.4:p.Gly207Cys | |
| ENST00000320580.8:c.619G>T | ENSP00000316454.4:p.Gly207Cys | |
| ENST00000527224.1:n.743G>T | ||
| ENST00000527380.1:c.325G>T | ENSP00000432639.1:p.Gly109Cys | |
| ENST00000533756.5:c.310G>T | ENSP00000437150.1:p.Gly104Cys | |
| NM_018026.3:c.619G>T | NP_060496.2:p.Gly207Cys | |
| XM_011545162.1:c.298G>T | XP_011543464.1:p.Gly100Cys | |
| XM_011545163.1:c.289G>T | XP_011543465.1:p.Gly97Cys | |
| XM_011545164.1:c.280G>T | XP_011543466.1:p.Gly94Cys | |
| XM_011545164.2:c.280G>T | XP_011543466.1:p.Gly94Cys | |
| XR_001747924.1:n.830G>T | ||
| NM_018026.4:c.619G>T MANE Select | NP_060496.2:p.Gly207Cys |