Revel Score:
ENST00000299441 (MANE Select)
0.797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6625235T>A , CM000673.2:g.6625235T>A | GRCh38 |
| NC_000011.9:g.6646466T>A , CM000673.1:g.6646466T>A | GRCh37 |
| NC_000011.8:g.6603042T>A | NCBI36 |
| NG_033858.1:g.35615A>T | |
| NG_033858.2:g.35615A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299441.5:c.7109A>T MANE Select | ENSP00000299441.3:p.Asn2370Ile | |
| ENST00000299441.4:c.7109A>T | ENSP00000299441.3:p.Asn2370Ile | |
| NM_003737.3:c.7109A>T | NP_003728.1:p.Asn2370Ile | |
| NM_003737.4:c.7109A>T MANE Select | NP_003728.1:p.Asn2370Ile |