Revel Score:
ENST00000358432 (MANE Select)
0.270
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02808868 (NFE)
Genomes Max Group AF
0.02638555 (NFE)
Exomes Max Group AF
0.02813667 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16130268C>T , CM000663.2:g.16130268C>T | GRCh38 |
| NC_000001.10:g.16456763C>T , CM000663.1:g.16456763C>T | GRCh37 |
| NC_000001.9:g.16329350C>T | NCBI36 |
| NG_021396.1:g.30820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2627G>A MANE Select | ENSP00000351209.5:p.Arg876His | |
| ENST00000358432.7:c.2627G>A | ENSP00000351209.5:p.Arg876His | |
| NM_004431.3:c.2627G>A | NP_004422.2:p.Arg876His | |
| NM_001329090.1:c.2465G>A | NP_001316019.1:p.Arg822His | |
| NM_004431.4:c.2627G>A | NP_004422.2:p.Arg876His | |
| NM_004431.5:c.2627G>A MANE Select | NP_004422.2:p.Arg876His | |
| NM_001329090.2:c.2465G>A | NP_001316019.1:p.Arg822His |