Revel Score:
ENST00000496887
0.680
ENST00000155840 (MANE Select)
0.680
ENST00000335475
0.680
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570656C>G , CM000673.2:g.2570656C>G | GRCh38 |
| NC_000011.9:g.2591886C>G , CM000673.1:g.2591886C>G | GRCh37 |
| NC_000011.8:g.2548462C>G | NCBI36 |
| NG_008935.1:g.130666C>G , LRG_287:g.130666C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.245C>G | ENSP00000434560.2:p.Thr82Arg | |
| ENST00000646564.2:c.478-12779C>G | ENSP00000495806.2:n.478-12779C>G | |
| ENST00000155840.12:c.506C>G MANE Select | ENSP00000155840.2:p.Thr169Arg | |
| ENST00000335475.6:c.125C>G | ENSP00000334497.5:p.Thr42Arg | |
| ENST00000646564.1:c.124-12779C>G | ENSP00000495806.1:n.124-12779C>G | |
| ENST00000155840.9:c.506C>G | ENSP00000155840.2:p.Thr169Arg | |
| ENST00000335475.5:c.125C>G | ENSP00000334497.5:p.Thr42Arg | |
| ENST00000496887.6:c.245C>G | ENSP00000434560.1:p.Thr82Arg | |
| NM_000218.2:c.506C>G , LRG_287t1:c.506C>G | NP_000209.2:p.Thr169Arg | |
| NM_181798.1:c.125C>G , LRG_287t2:c.125C>G | NP_861463.1:p.Thr42Arg | |
| NM_000218.3:c.506C>G MANE Select | NP_000209.2:p.Thr169Arg |