Revel Score:
ENST00000321612 (MANE Select)
0.975
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556173C>T , CM000671.2:g.6556173C>T | GRCh38 |
| NC_000009.11:g.6556173C>T , CM000671.1:g.6556173C>T | GRCh37 |
| NC_000009.10:g.6546173C>T | NCBI36 |
| NG_016397.1:g.94520G>A , LRG_643:g.94520G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2182G>A MANE Select | ENSP00000370737.4:p.Gly728Arg | |
| ENST00000638233.1:n.617G>A | ||
| ENST00000638661.1:c.382G>A | ENSP00000491369.1:p.Gly128Arg | |
| ENST00000638694.1:n.369G>A | ||
| ENST00000639318.1:c.382G>A | ENSP00000491932.1:p.Gly128Arg | |
| ENST00000639364.1:n.1882G>A | ||
| ENST00000639443.1:n.1750G>A | ||
| ENST00000639954.1:n.1890G>A | ||
| ENST00000640505.1:n.421G>A | ||
| ENST00000321612.6:c.2182G>A | ENSP00000370737.3:p.Gly728Arg | |
| NM_000170.2:c.2182G>A , LRG_643t1:c.2182G>A | NP_000161.2:p.Gly728Arg | |
| NM_000170.3:c.2182G>A MANE Select | NP_000161.2:p.Gly728Arg |