Revel Score:
ENST00000291582 (MANE Select)
0.492
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286007A>G , CM000683.2:g.44286007A>G | GRCh38 |
| NC_000021.8:g.45705890A>G , CM000683.1:g.45705890A>G | GRCh37 |
| NC_000021.7:g.44530318A>G | NCBI36 |
| NG_009556.1:g.5128A>G , LRG_18:g.5128A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1A>G MANE Select | ENSP00000291582.5:p.Met1Val | |
| ENST00000291582.5:c.1A>G | ENSP00000291582.5:p.Met1Val | |
| ENST00000527919.5:n.162A>G | ||
| ENST00000530812.5:n.170A>G | ||
| NM_000383.3:c.1A>G | NP_000374.1:p.Met1Val | |
| XM_011529551.1:c.1A>G | XP_011527853.1:p.Met1Val | |
| NM_000383.4:c.1A>G MANE Select | NP_000374.1:p.Met1Val |