Revel Score:
ENST00000204961 (MANE Select)
0.916
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68839731G>A , CM000685.2:g.68839731G>A | GRCh38 |
| NC_000023.10:g.68059574G>A , CM000685.1:g.68059574G>A | GRCh37 |
| NC_000023.9:g.67976299G>A | NCBI36 |
| NG_008887.1:g.15735G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.474G>A MANE Select | ENSP00000204961.4:p.Met158Ile | |
| ENST00000204961.4:c.474G>A | ENSP00000204961.4:p.Met158Ile | |
| NM_004429.4:c.474G>A | NP_004420.1:p.Met158Ile | |
| NM_004429.5:c.474G>A MANE Select | NP_004420.1:p.Met158Ile |