Revel Score:
ENST00000320868 (MANE Select)
0.528
ENST00000397797
0.528
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176999G>A , CM000678.2:g.176999G>A | GRCh38 |
| NC_000016.9:g.226998G>A , CM000678.1:g.226998G>A | GRCh37 |
| NC_000016.8:g.166998G>A | NCBI36 |
| NG_000006.1:g.37862G>A | |
| NG_059186.1:g.5349G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.166G>A MANE Select | ENSP00000322421.5:p.Val56Ile | |
| ENST00000397797.1:c.70G>A | ENSP00000380899.1:p.Val24Ile | |
| ENST00000472694.1:n.302G>A | ||
| ENST00000487791.1:n.135G>A | ||
| NM_000558.4:c.166G>A | NP_000549.1:p.Val56Ile | |
| NM_000558.5:c.166G>A MANE Select | NP_000549.1:p.Val56Ile |