Revel Score:
ENST00000393655 (MANE Select)
0.966
ENST00000263046
0.966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50838007G>A , CM000668.2:g.50838007G>A | GRCh38 |
| NC_000006.11:g.50805720G>A , CM000668.1:g.50805720G>A | GRCh37 |
| NC_000006.10:g.50913679G>A | NCBI36 |
| NG_008438.1:g.24282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.854G>A MANE Select | ENSP00000377265.2:p.Arg285Gln | |
| ENST00000393655.3:c.854G>A | ENSP00000377265.2:p.Arg285Gln | |
| NM_003221.3:c.854G>A | NP_003212.2:p.Arg285Gln | |
| XM_006715176.2:c.854G>A | XP_006715239.1:p.Arg285Gln | |
| XM_006715177.2:c.800G>A | XP_006715240.1:p.Arg267Gln | |
| XM_011514834.1:c.881G>A | XP_011513136.1:p.Arg294Gln | |
| XM_011514835.1:c.881G>A | XP_011513137.1:p.Arg294Gln | |
| XM_011514836.1:c.881G>A | XP_011513138.1:p.Arg294Gln | |
| XM_011514837.1:c.881G>A | XP_011513139.1:p.Arg294Gln | |
| XM_011514837.2:c.881G>A | XP_011513139.1:p.Arg294Gln | |
| XM_017011233.1:c.1019G>A | XP_016866722.1:p.Arg340Gln | |
| XM_017011234.1:c.983G>A | XP_016866723.1:p.Arg328Gln | |
| XM_017011235.2:c.395G>A | XP_016866724.1:p.Arg132Gln | |
| NM_003221.4:c.854G>A MANE Select | NP_003212.2:p.Arg285Gln |