Revel Score:
ENST00000367797 (MANE Select)
0.274
ENST00000367796
0.274
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169572275C>T , CM000663.2:g.169572275C>T | GRCh38 |
| NC_000001.10:g.169541513C>T , CM000663.1:g.169541513C>T | GRCh37 |
| NC_000001.9:g.167808137C>T | NCBI36 |
| NG_011806.1:g.19257G>A , LRG_553:g.19257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.319G>A MANE Select | ENSP00000356771.3:p.Asp107Asn | |
| ENST00000367796.3:c.319G>A | ENSP00000356770.3:p.Asp107Asn | |
| ENST00000367797.7:c.319G>A | ENSP00000356771.3:p.Asp107Asn | |
| NM_000130.4:c.319G>A , LRG_553t1:c.319G>A | NP_000121.2:p.Asp107Asn | |
| XM_017000660.2:c.-93G>A | XP_016856149.1:n.-93G>A | |
| NM_000130.5:c.319G>A MANE Select | NP_000121.2:p.Asp107Asn |