Revel Score:
ENST00000348624
0.023
ENST00000401897
0.023
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01440378 (EAS)
Genomes Max Group AF
0.01381862 (EAS)
Exomes Max Group AF
0.01415975 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4783761A>G , CM000669.2:g.4783761A>G | GRCh38 |
| NC_000007.13:g.4823392A>G , CM000669.1:g.4823392A>G | GRCh37 |
| NC_000007.12:g.4789918A>G | NCBI36 |
| NG_028111.1:g.13131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.342A>G | ||
| ENST00000496303.6:n.412A>G | ||
| ENST00000647628.1:n.75A>G | ||
| ENST00000647984.1:c.397A>G | ENSP00000497794.1:p.Thr133Ala | |
| ENST00000648925.1:c.584A>G | ENSP00000496830.1:p.His195Arg | |
| ENST00000649063.2:c.584A>G MANE Select | ENSP00000497815.1:p.His195Arg | |
| ENST00000650310.1:c.584A>G | ENSP00000497395.1:p.His195Arg | |
| ENST00000650451.1:c.180-442A>G | ENSP00000496998.1:n.180-442A>G | |
| ENST00000348624.4:c.584A>G | ENSP00000297562.4:p.His195Arg | |
| ENST00000477680.5:n.342A>G | ||
| ENST00000491375.1:n.439A>G | ||
| ENST00000496303.5:n.648A>G | ||
| NM_014855.2:c.584A>G | NP_055670.1:p.His195Arg | |
| XR_242109.1:n.609A>G | ||
| NM_001364858.1:c.116A>G | NP_001351787.1:p.His39Arg | |
| NM_014855.3:c.584A>G MANE Select | NP_055670.1:p.His195Arg | |
| NR_157345.1:n.677A>G |