Revel Score:
ENST00000380299
0.803
ENST00000417377
0.388
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00053068 (AFR)
Genomes Max Group AF
0.00047801 (AFR)
Exomes Max Group AF
0.00046915 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232998C>T , CM000673.2:g.5232998C>T | GRCh38 |
| NC_000011.9:g.5254228C>T , CM000673.1:g.5254228C>T | GRCh37 |
| NC_000011.8:g.5210804C>T | NCBI36 |
| NG_000007.3:g.64618G>A | |
| NG_063112.2:g.15660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.410G>A | ENSP00000494708.1:p.Gly137Asp | |
| ENST00000650601.1:c.410G>A MANE Select | ENSP00000497529.1:p.Gly137Asp | |
| ENST00000292901.7:c.316-200G>A | ENSP00000292901.3:n.316-200G>A | |
| ENST00000380299.3:c.410G>A | ENSP00000369654.3:p.Gly137Asp | |
| ENST00000417377.1:c.187G>A | ENSP00000414741.1:p.Val63Met | |
| NM_000519.3:c.410G>A | NP_000510.1:p.Gly137Asp | |
| NM_000519.4:c.410G>A MANE Select | NP_000510.1:p.Gly137Asp |