Revel Score:
ENST00000326043 (MANE Select)
0.903
ENST00000393350
0.903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79599715G>C , CM000678.2:g.79599715G>C | GRCh38 |
| NC_000016.9:g.79633612G>C , CM000678.1:g.79633612G>C | GRCh37 |
| NC_000016.8:g.78191113G>C | NCBI36 |
| NG_016440.1:g.6011C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326043.5:c.188C>G MANE Select | ENSP00000327048.4:p.Pro63Arg | |
| ENST00000326043.4:c.188C>G | ENSP00000327048.4:p.Pro63Arg | |
| ENST00000393350.1:c.188C>G | ENSP00000377019.1:p.Pro63Arg | |
| ENST00000569649.1:c.188C>G | ENSP00000455097.1:p.Pro63Arg | |
| NM_001031804.2:c.188C>G | NP_001026974.1:p.Pro63Arg | |
| NM_005360.4:c.188C>G | NP_005351.2:p.Pro63Arg | |
| XM_011523084.1:c.188C>G | XP_011521386.1:p.Pro63Arg | |
| XM_017023233.2:c.188C>G | XP_016878722.1:p.Pro63Arg | |
| XM_017023234.2:c.188C>G | XP_016878723.1:p.Pro63Arg | |
| XM_017023235.2:c.188C>G | XP_016878724.1:p.Pro63Arg | |
| XM_024450279.1:c.188C>G | XP_024306047.1:p.Pro63Arg | |
| XR_001751902.2:n.2238C>G | ||
| XR_002957802.1:n.2238C>G | ||
| XR_002957803.1:n.2238C>G | ||
| XR_002957804.1:n.2238C>G | ||
| NM_005360.5:c.188C>G MANE Select | NP_005351.2:p.Pro63Arg | |
| NM_001031804.3:c.188C>G | NP_001026974.1:p.Pro63Arg |