Revel Score:
ENST00000372980 (MANE Select)
0.707
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118516A>C , CM000682.2:g.44118516A>C | GRCh38 |
| NC_000020.10:g.42747156A>C , CM000682.1:g.42747156A>C | GRCh37 |
| NC_000020.9:g.42180570A>C | NCBI36 |
| NG_031867.1:g.74063T>G , LRG_394:g.74063T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1277T>G MANE Select | ENSP00000362071.3:p.Phe426Cys | |
| ENST00000372980.3:c.1277T>G | ENSP00000362071.3:p.Phe426Cys | |
| NM_020433.4:c.1277T>G , LRG_394t1:c.1277T>G | NP_065166.2:p.Phe426Cys | |
| XM_006723832.2:c.1277T>G | XP_006723895.1:p.Phe426Cys | |
| NM_020433.5:c.1277T>G MANE Select | NP_065166.2:p.Phe426Cys |