Revel Score:
ENST00000366930 (MANE Select)
0.665
ENST00000366929
0.665
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218405280G>A , CM000663.2:g.218405280G>A | GRCh38 |
| NC_000001.10:g.218578622G>A , CM000663.1:g.218578622G>A | GRCh37 |
| NC_000001.9:g.216645245G>A | NCBI36 |
| NG_027721.1:g.64947G>A | |
| NG_027721.2:g.64947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.458G>A MANE Select | ENSP00000355897.4:p.Arg153His | |
| ENST00000366929.4:c.542G>A | ENSP00000355896.4:p.Arg181His | |
| ENST00000366930.8:c.458G>A | ENSP00000355897.4:p.Arg153His | |
| ENST00000488793.1:n.122G>A | ||
| NM_001135599.2:c.542G>A | NP_001129071.1:p.Arg181His | |
| NM_003238.3:c.458G>A | NP_003229.1:p.Arg153His | |
| NM_001135599.3:c.542G>A | NP_001129071.1:p.Arg181His | |
| NM_003238.4:c.458G>A | NP_003229.1:p.Arg153His | |
| NR_138148.1:n.1876G>A | ||
| NR_138149.1:n.1960G>A | ||
| NM_003238.5:c.458G>A | NP_003229.1:p.Arg153His | |
| NM_003238.6:c.458G>A MANE Select | NP_003229.1:p.Arg153His | |
| NM_001135599.4:c.542G>A | NP_001129071.1:p.Arg181His | |
| NR_138148.2:n.1824G>A | ||
| NR_138149.2:n.1908G>A |