Revel Score:
ENST00000320868 (MANE Select)
0.761
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004533 (EAS)
Exomes Max Group AF
0.00005214 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176800G>T , CM000678.2:g.176800G>T | GRCh38 |
| NC_000016.9:g.226799G>T , CM000678.1:g.226799G>T | GRCh37 |
| NC_000016.8:g.166799G>T | NCBI36 |
| NG_000006.1:g.37663G>T | |
| NG_059186.1:g.5150G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.84G>T MANE Select | ENSP00000322421.5:p.Glu28Asp | |
| ENST00000397797.1:c.-2+38G>T | ENSP00000380899.1:n.-2+38G>T | |
| ENST00000472694.1:n.103G>T | ||
| ENST00000487791.1:n.53G>T | ||
| NM_000558.4:c.84G>T | NP_000549.1:p.Glu28Asp | |
| NM_000558.5:c.84G>T MANE Select | NP_000549.1:p.Glu28Asp |