Revel Score:
ENST00000321612 (MANE Select)
0.963
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000995 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595109G>T , CM000671.2:g.6595109G>T | GRCh38 |
| NC_000009.11:g.6595109G>T , CM000671.1:g.6595109G>T | GRCh37 |
| NC_000009.10:g.6585109G>T | NCBI36 |
| NG_016397.1:g.55584C>A , LRG_643:g.55584C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1166C>A MANE Select | ENSP00000370737.4:p.Ala389Glu | |
| ENST00000638654.1:c.413C>A | ENSP00000491101.1:p.Ala138Glu | |
| ENST00000639364.1:n.866C>A | ||
| ENST00000639443.1:n.734C>A | ||
| ENST00000639493.1:n.318C>A | ||
| ENST00000639954.1:n.874C>A | ||
| ENST00000640592.1:n.1049C>A | ||
| ENST00000321612.6:c.1166C>A | ENSP00000370737.3:p.Ala389Glu | |
| ENST00000463305.1:n.250C>A | ||
| NM_000170.2:c.1166C>A , LRG_643t1:c.1166C>A | NP_000161.2:p.Ala389Glu | |
| NM_000170.3:c.1166C>A MANE Select | NP_000161.2:p.Ala389Glu |