Revel Score:
ENST00000367797 (MANE Select)
0.772
ENST00000367796
0.772
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169549874C>A , CM000663.2:g.169549874C>A | GRCh38 |
| NC_000001.10:g.169519112C>A , CM000663.1:g.169519112C>A | GRCh37 |
| NC_000001.9:g.167785736C>A | NCBI36 |
| NG_011806.1:g.41658G>T , LRG_553:g.41658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1538G>T MANE Select | ENSP00000356771.3:p.Arg513Ile | |
| ENST00000367796.3:c.1538G>T | ENSP00000356770.3:p.Arg513Ile | |
| ENST00000367797.7:c.1538G>T | ENSP00000356771.3:p.Arg513Ile | |
| NM_000130.4:c.1538G>T , LRG_553t1:c.1538G>T | NP_000121.2:p.Arg513Ile | |
| XM_017000660.2:c.1127G>T | XP_016856149.1:p.Arg376Ile | |
| NM_000130.5:c.1538G>T MANE Select | NP_000121.2:p.Arg513Ile |