Revel Score:
ENST00000378802 (MANE Select)
0.306
ENST00000274118
0.306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194524A>G , CM000666.2:g.186194524A>G | GRCh38 |
| NC_000004.11:g.187115678A>G , CM000666.1:g.187115678A>G | GRCh37 |
| NC_000004.10:g.187352672A>G | NCBI36 |
| NG_007965.1:g.8005A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.239A>G MANE Select | ENSP00000368079.4:p.Tyr80Cys | |
| ENST00000378802.4:c.239A>G | ENSP00000368079.4:p.Tyr80Cys | |
| NM_207352.3:c.239A>G | NP_997235.3:p.Tyr80Cys | |
| XM_005262935.2:c.239A>G | XP_005262992.1:p.Tyr80Cys | |
| XM_005262935.4:c.239A>G | XP_005262992.1:p.Tyr80Cys | |
| XM_017008037.1:c.-72A>G | XP_016863526.1:n.-72A>G | |
| NM_207352.4:c.239A>G MANE Select | NP_997235.3:p.Tyr80Cys |