Revel Score:
ENST00000540413
0.456
ENST00000263431 (MANE Select)
0.456
ENST00000542049
0.456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53898102T>G , CM000681.2:g.53898102T>G | GRCh38 |
| NC_000019.9:g.54401356T>G , CM000681.1:g.54401356T>G | GRCh37 |
| NC_000019.8:g.59093168T>G | NCBI36 |
| NG_009114.1:g.20890T>G , LRG_669:g.20890T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1083T>G | ENSP00000507230.1:p.Ser361Arg | |
| ENST00000682268.1:n.1381T>G | ||
| ENST00000682676.1:n.484T>G | ||
| ENST00000682902.1:n.1385T>G | ||
| ENST00000683513.1:c.1083T>G | ENSP00000506809.1:p.Ser361Arg | |
| ENST00000263431.4:c.1083T>G MANE Select | ENSP00000263431.3:p.Ser361Arg | |
| ENST00000263431.3:c.1083T>G | ENSP00000263431.3:p.Ser361Arg | |
| NM_001316329.1:c.1083T>G | NP_001303258.1:p.Ser361Arg | |
| NM_002739.3:c.1083T>G , LRG_669t1:c.1083T>G | NP_002730.1:p.Ser361Arg | |
| NM_002739.4:c.1083T>G | NP_002730.1:p.Ser361Arg | |
| XM_011527108.1:c.174T>G | XP_011525410.1:p.Ser58Arg | |
| NM_002739.5:c.1083T>G MANE Select | NP_002730.1:p.Ser361Arg | |
| NM_001316329.2:c.1083T>G | NP_001303258.1:p.Ser361Arg |