Revel Score:
ENST00000380299
0.577
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002555 (NFE)
Exomes Max Group AF
0.00002711 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5233059G>A , CM000673.2:g.5233059G>A | GRCh38 |
| NC_000011.9:g.5254289G>A , CM000673.1:g.5254289G>A | GRCh37 |
| NC_000011.8:g.5210865G>A | NCBI36 |
| NG_000007.3:g.64557C>T | |
| NG_063112.2:g.15599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.349C>T | ENSP00000494708.1:p.Arg117Cys | |
| ENST00000650601.1:c.349C>T MANE Select | ENSP00000497529.1:p.Arg117Cys | |
| ENST00000292901.7:c.316-261C>T | ENSP00000292901.3:n.316-261C>T | |
| ENST00000380299.3:c.349C>T | ENSP00000369654.3:p.Arg117Cys | |
| ENST00000417377.1:c.126C>T | ENSP00000414741.1:p.Pro42= | |
| NM_000519.3:c.349C>T | NP_000510.1:p.Arg117Cys | |
| NM_000519.4:c.349C>T MANE Select | NP_000510.1:p.Arg117Cys |