Revel Score:
ENST00000389857 (MANE Select)
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00189325 (AMR)
Genomes Max Group AF
0.00157723 (AMR)
Exomes Max Group AF
0.0018606 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91313360T>C , CM000676.2:g.91313360T>C | GRCh38 |
| NC_000014.8:g.91779704T>C , CM000676.1:g.91779704T>C | GRCh37 |
| NC_000014.7:g.90849457T>C | NCBI36 |
| NG_033118.1:g.109485A>G | |
| NG_033118.2:g.109485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.2456A>G MANE Select | ENSP00000374507.6:p.Asp819Gly | |
| ENST00000389857.10:c.2456A>G | ENSP00000374507.6:p.Asp819Gly | |
| NM_001080414.3:c.2456A>G | NP_001073883.2:p.Asp819Gly | |
| XM_005267691.3:c.2456A>G | XP_005267748.1:p.Asp819Gly | |
| XM_011536796.1:c.2348A>G | XP_011535098.1:p.Asp783Gly | |
| XR_429316.2:n.2584A>G | ||
| XR_943459.1:n.2584A>G | ||
| XM_005267691.5:c.2456A>G | XP_005267748.1:p.Asp819Gly | |
| XM_011536796.2:c.2348A>G | XP_011535098.1:p.Asp783Gly | |
| XM_017021335.2:c.2456A>G | XP_016876824.1:p.Asp819Gly | |
| XM_017021337.2:c.2456A>G | XP_016876826.1:p.Asp819Gly | |
| XR_429316.4:n.2582A>G | ||
| NM_001080414.4:c.2456A>G MANE Select | NP_001073883.2:p.Asp819Gly |