Revel Score:
ENST00000263791 (MANE Select)
0.387
ENST00000382727
0.387
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39967713C>G , CM000677.2:g.39967713C>G | GRCh38 |
| NC_000015.9:g.40259914C>G , CM000677.1:g.40259914C>G | GRCh37 |
| NC_000015.8:g.38047206C>G | NCBI36 |
| NG_034053.1:g.38590C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.1387C>G MANE Select | ENSP00000263791.5:p.Arg463Gly | |
| ENST00000263791.9:c.1387C>G | ENSP00000263791.5:p.Arg463Gly | |
| ENST00000559624.5:c.1387C>G | ENSP00000453148.1:p.Arg463Gly | |
| ENST00000560855.5:c.803C>G | ||
| NM_001013703.3:c.1387C>G | NP_001013725.2:p.Arg463Gly | |
| XM_005254392.1:c.1387C>G | XP_005254449.1:p.Arg463Gly | |
| XM_011521599.1:c.1387C>G | XP_011519901.1:p.Arg463Gly | |
| XM_011521600.1:c.1387C>G | XP_011519902.1:p.Arg463Gly | |
| XM_005254392.3:c.1387C>G | XP_005254449.1:p.Arg463Gly | |
| XM_011521599.2:c.1387C>G | XP_011519901.1:p.Arg463Gly | |
| XM_011521600.3:c.1387C>G | XP_011519902.1:p.Arg463Gly | |
| XM_017022219.2:c.1387C>G | XP_016877708.1:p.Arg463Gly | |
| NM_001013703.4:c.1387C>G MANE Select | NP_001013725.2:p.Arg463Gly |