Revel Score:
ENST00000542601
0.853
ENST00000222271 (MANE Select)
0.853
ENST00000425807
0.853
ENST00000454701
0.853
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786591C>T , CM000681.2:g.18786591C>T | GRCh38 |
| NC_000019.9:g.18897401C>T , CM000681.1:g.18897401C>T | GRCh37 |
| NC_000019.8:g.18758401C>T | NCBI36 |
| NG_007070.1:g.9714G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1195G>A MANE Select | ENSP00000222271.2:p.Asp399Asn | |
| ENST00000222271.6:c.1195G>A | ENSP00000222271.2:p.Asp399Asn | |
| ENST00000425807.1:c.1036G>A | ENSP00000403792.1:p.Asp346Asn | |
| ENST00000542601.6:c.1096G>A | ENSP00000439156.2:p.Asp366Asn | |
| ENST00000612179.1:n.445G>A | ||
| NM_000095.2:c.1195G>A | NP_000086.2:p.Asp399Asn | |
| NM_000095.3:c.1195G>A MANE Select | NP_000086.2:p.Asp399Asn |