Revel Score:
ENST00000375994
0.119
ENST00000375985 (MANE Select)
0.119
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31826918G>A , CM000682.2:g.31826918G>A | GRCh38 |
| NC_000020.10:g.30414721G>A , CM000682.1:g.30414721G>A | GRCh37 |
| NC_000020.9:g.29878382G>A | NCBI36 |
| NG_012847.1:g.12544G>A , LRG_392:g.12544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.1204G>A MANE Select | ENSP00000365152.4:p.Val402Ile | |
| ENST00000375985.4:c.1204G>A | ENSP00000365152.4:p.Val402Ile | |
| ENST00000375994.6:c.1204G>A | ENSP00000365162.2:p.Val402Ile | |
| ENST00000468730.1:n.142G>A | ||
| NM_033118.3:c.1204G>A , LRG_392t1:c.1204G>A | NP_149109.1:p.Val402Ile | |
| XR_244155.1:n.1855G>A | ||
| NM_033118.4:c.1204G>A MANE Select | NP_149109.1:p.Val402Ile |