Revel Score:
ENST00000358432 (MANE Select)
0.416
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148920A>T , CM000663.2:g.16148920A>T | GRCh38 |
| NC_000001.10:g.16475415A>T , CM000663.1:g.16475415A>T | GRCh37 |
| NC_000001.9:g.16348002A>T | NCBI36 |
| NG_021396.1:g.12168T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.281T>A MANE Select | ENSP00000351209.5:p.Ile94Asn | |
| ENST00000358432.7:c.281T>A | ENSP00000351209.5:p.Ile94Asn | |
| ENST00000461614.1:n.333T>A | ||
| NM_004431.3:c.281T>A | NP_004422.2:p.Ile94Asn | |
| NM_001329090.1:c.119T>A | NP_001316019.1:p.Ile40Asn | |
| NM_004431.4:c.281T>A | NP_004422.2:p.Ile94Asn | |
| XM_017000537.1:c.281T>A | XP_016856026.1:p.Ile94Asn | |
| NM_004431.5:c.281T>A MANE Select | NP_004422.2:p.Ile94Asn | |
| NM_001329090.2:c.119T>A | NP_001316019.1:p.Ile40Asn |