Revel Score:
ENST00000370449
0.973
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001775 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845781A>G , CM000672.2:g.99845781A>G | GRCh38 |
| NC_000010.10:g.101605538A>G , CM000672.1:g.101605538A>G | GRCh37 |
| NC_000010.9:g.101595528A>G | NCBI36 |
| NG_011798.1:g.68076A>G | |
| NG_011798.2:g.68184A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4145A>G MANE Select | ENSP00000497274.1:p.Gln1382Arg | |
| ENST00000648523.1:c.33A>G | ||
| ENST00000649459.1:n.493A>G | ||
| ENST00000370449.8:c.4145A>G | ENSP00000359478.4:p.Gln1382Arg | |
| NM_000392.4:c.4145A>G | NP_000383.1:p.Gln1382Arg | |
| XM_006717630.2:c.3449A>G | XP_006717693.1:p.Gln1150Arg | |
| XR_945604.1:n.4275A>G | ||
| XR_945605.1:n.4209A>G | ||
| NM_000392.5:c.4145A>G MANE Select | NP_000383.2:p.Gln1382Arg | |
| XM_006717630.3:c.3449A>G | XP_006717693.1:p.Gln1150Arg | |
| XR_945604.3:n.4329A>G | ||
| XR_945605.3:n.4261A>G |