Revel Score:
ENST00000222139 (MANE Select)
0.015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11378194C>G , CM000681.2:g.11378194C>G | GRCh38 |
| NC_000019.9:g.11488870C>G , CM000681.1:g.11488870C>G | GRCh37 |
| NC_000019.8:g.11349870C>G | NCBI36 |
| NG_021395.1:g.11149G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222139.11:c.1317G>C MANE Select | ENSP00000222139.5:p.Trp439Cys | |
| ENST00000222139.10:c.1317G>C | ENSP00000222139.5:p.Trp439Cys | |
| ENST00000586890.5:c.*1060G>C | ENSP00000467230.1:n.*1060G>C | |
| ENST00000588681.5:n.1702G>C | ||
| ENST00000588859.5:c.*1060G>C | ENSP00000466784.1:n.*1060G>C | |
| ENST00000591958.5:c.*695G>C | ENSP00000468187.1:n.*695G>C | |
| ENST00000592375.6:c.*425G>C | ENSP00000467809.2:n.*425G>C | |
| NM_000121.3:c.1317G>C | NP_000112.1:p.Trp439Cys | |
| NR_033663.1:n.1702G>C | ||
| NM_000121.4:c.1317G>C MANE Select | NP_000112.1:p.Trp439Cys | |
| NR_033663.2:n.1674G>C |