Revel Score:
ENST00000402696 (MANE Select)
0.037
ENST00000264998
0.037
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01256783 (EAS)
Genomes Max Group AF
0.01604681 (EAS)
Exomes Max Group AF
0.0118037 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133757854A>G , CM000665.2:g.133757854A>G | GRCh38 |
| NC_000003.11:g.133476698A>G , CM000665.1:g.133476698A>G | GRCh37 |
| NC_000003.10:g.134959388A>G | NCBI36 |
| NG_013080.1:g.16722A>G | |
| NG_013080.2:g.100857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.956A>G MANE Select | ENSP00000385834.3:p.His319Arg | |
| ENST00000402696.7:c.956A>G | ENSP00000385834.3:p.His319Arg | |
| ENST00000485977.1:c.*12A>G | ENSP00000418716.1:n.*12A>G | |
| NM_001063.3:c.956A>G | NP_001054.1:p.His319Arg | |
| XM_011513100.1:c.956A>G | XP_011511402.1:p.His319Arg | |
| NM_001354703.1:c.824A>G | NP_001341632.1:p.His275Arg | |
| NM_001354704.1:c.575A>G | NP_001341633.1:p.His192Arg | |
| NM_001063.4:c.956A>G MANE Select | NP_001054.2:p.His319Arg | |
| NM_001354703.2:c.824A>G | NP_001341632.2:p.His275Arg | |
| NM_001354704.2:c.575A>G | NP_001341633.2:p.His192Arg |