Revel Score:
ENST00000370642
0.344
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00057637 (EAS)
Genomes Max Group AF
0.00006808 (EAS)
Exomes Max Group AF
0.00060923 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97601990G>A , CM000672.2:g.97601990G>A | GRCh38 |
| NC_000010.10:g.99361747G>A , CM000672.1:g.99361747G>A | GRCh37 |
| NC_000010.9:g.99351737G>A | NCBI36 |
| NG_027922.1:g.22646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.834G>A MANE Select | ENSP00000359680.4:p.Ala278= | |
| ENST00000370642.4:c.244G>A | ||
| ENST00000370646.8:c.834G>A | ENSP00000359680.4:p.Ala278= | |
| ENST00000370647.8:c.345G>A | ENSP00000359681.4:p.Ala115= | |
| ENST00000370649.3:c.345G>A | ENSP00000359683.3:p.Ala115= | |
| NM_001134670.1:c.345G>A | NP_001128142.1:p.Ala115= | |
| NM_138413.3:c.834G>A | NP_612422.2:p.Ala278= | |
| NM_138413.4:c.834G>A MANE Select | NP_612422.2:p.Ala278= | |
| NM_001134670.2:c.345G>A | NP_001128142.1:p.Ala115= |