Revel Score:
ENST00000245907 (MANE Select)
0.340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6693033G>A , CM000681.2:g.6693033G>A | GRCh38 |
| NC_000019.9:g.6693044G>A , CM000681.1:g.6693044G>A | GRCh37 |
| NC_000019.8:g.6644044G>A | NCBI36 |
| NG_009557.1:g.32619C>T , LRG_27:g.32619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1629C>T | ||
| ENST00000695652.1:c.3158C>T | ENSP00000512083.1:p.Ala1053Val | |
| ENST00000695653.1:c.1190C>T | ENSP00000512084.1:p.Ala397Val | |
| ENST00000695654.1:c.2405C>T | ENSP00000512085.1:p.Ala802Val | |
| ENST00000695655.1:c.2222C>T | ENSP00000512086.1:n.2222C>T | |
| ENST00000695692.1:n.2645C>T | ||
| ENST00000245907.11:c.3281C>T MANE Select | ENSP00000245907.4:p.Ala1094Val | |
| ENST00000245907.10:c.3281C>T | ENSP00000245907.4:p.Ala1094Val | |
| ENST00000598805.2:n.51C>T | ||
| NM_000064.3:c.3281C>T | NP_000055.2:p.Ala1094Val | |
| NM_000064.4:c.3281C>T MANE Select | NP_000055.2:p.Ala1094Val |