Revel Score:
ENST00000320580 (MANE Select)
0.127
ENST00000533756
0.127
ENST00000527380
0.127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211212A>G , CM000673.2:g.66211212A>G | GRCh38 |
| NC_000011.9:g.65978683A>G , CM000673.1:g.65978683A>G | GRCh37 |
| NC_000011.8:g.65735259A>G | NCBI36 |
| NG_033900.1:g.145860A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.613A>G MANE Select | ENSP00000316454.4:p.Ile205Val | |
| ENST00000320580.8:c.613A>G | ENSP00000316454.4:p.Ile205Val | |
| ENST00000527224.1:n.737A>G | ||
| ENST00000527380.1:c.319A>G | ENSP00000432639.1:p.Ile107Val | |
| ENST00000533756.5:c.304A>G | ENSP00000437150.1:p.Ile102Val | |
| NM_018026.3:c.613A>G | NP_060496.2:p.Ile205Val | |
| XM_011545162.1:c.292A>G | XP_011543464.1:p.Ile98Val | |
| XM_011545163.1:c.283A>G | XP_011543465.1:p.Ile95Val | |
| XM_011545164.1:c.274A>G | XP_011543466.1:p.Ile92Val | |
| XM_011545164.2:c.274A>G | XP_011543466.1:p.Ile92Val | |
| XR_001747924.1:n.824A>G | ||
| NM_018026.4:c.613A>G MANE Select | NP_060496.2:p.Ile205Val |