Revel Score:
ENST00000393655 (MANE Select)
0.830
ENST00000344788
0.830
ENST00000263046
0.830
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50823543C>G , CM000668.2:g.50823543C>G | GRCh38 |
| NC_000006.11:g.50791256C>G , CM000668.1:g.50791256C>G | GRCh37 |
| NC_000006.10:g.50899215C>G | NCBI36 |
| NG_008438.1:g.9818C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.218C>G MANE Select | ENSP00000377265.2:p.Pro73Arg | |
| ENST00000344788.7:c.212C>G | ENSP00000342252.3:p.Pro71Arg | |
| ENST00000393655.3:c.218C>G | ENSP00000377265.2:p.Pro73Arg | |
| ENST00000489228.1:n.513C>G | ||
| NM_003221.3:c.218C>G | NP_003212.2:p.Pro73Arg | |
| XM_006715176.2:c.218C>G | XP_006715239.1:p.Pro73Arg | |
| XM_006715177.2:c.164C>G | XP_006715240.1:p.Pro55Arg | |
| XM_011514834.1:c.245C>G | XP_011513136.1:p.Pro82Arg | |
| XM_011514835.1:c.245C>G | XP_011513137.1:p.Pro82Arg | |
| XM_011514836.1:c.245C>G | XP_011513138.1:p.Pro82Arg | |
| XM_011514837.1:c.245C>G | XP_011513139.1:p.Pro82Arg | |
| XM_011514837.2:c.245C>G | XP_011513139.1:p.Pro82Arg | |
| XM_017011233.1:c.383C>G | XP_016866722.1:p.Pro128Arg | |
| XM_017011234.1:c.347C>G | XP_016866723.1:p.Pro116Arg | |
| XM_017011235.2:c.81+4571C>G | XP_016866724.1:n.81+4571C>G | |
| NM_003221.4:c.218C>G MANE Select | NP_003212.2:p.Pro73Arg |