Revel Score:
ENST00000372980 (MANE Select)
0.505
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44160189A>C , CM000682.2:g.44160189A>C | GRCh38 |
| NC_000020.10:g.42788829A>C , CM000682.1:g.42788829A>C | GRCh37 |
| NC_000020.9:g.42222243A>C | NCBI36 |
| NG_031867.1:g.32390T>G , LRG_394:g.32390T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.598T>G MANE Select | ENSP00000362071.3:p.Phe200Val | |
| ENST00000372980.3:c.598T>G | ENSP00000362071.3:p.Phe200Val | |
| NM_020433.4:c.598T>G , LRG_394t1:c.598T>G | NP_065166.2:p.Phe200Val | |
| XM_006723832.2:c.598T>G | XP_006723895.1:p.Phe200Val | |
| NM_020433.5:c.598T>G MANE Select | NP_065166.2:p.Phe200Val |