Revel Score:
ENST00000284885 (MANE Select)
0.150
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18297801G>T , CM000683.2:g.18297801G>T | GRCh38 |
| NC_000021.8:g.19670118G>T , CM000683.1:g.19670118G>T | GRCh37 |
| NC_000021.7:g.18591989G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2194C>A MANE Select | ENSP00000284885.3:p.Pro732Thr | |
| ENST00000284885.7:c.2194C>A | ENSP00000284885.3:p.Pro732Thr | |
| XM_011529654.1:c.2329C>A | XP_011527956.1:p.Pro777Thr | |
| XM_011529655.1:c.2329C>A | XP_011527957.1:p.Pro777Thr | |
| XM_011529656.1:c.2329C>A | XP_011527958.1:p.Pro777Thr | |
| XM_011529657.1:c.2284C>A | XP_011527959.1:p.Pro762Thr | |
| XM_011529658.1:c.2248C>A | XP_011527960.1:p.Pro750Thr | |
| XM_011529659.1:c.2239C>A | XP_011527961.1:p.Pro747Thr | |
| XM_011529654.2:c.2329C>A | XP_011527956.1:p.Pro777Thr | |
| XM_011529656.2:c.2329C>A | XP_011527958.1:p.Pro777Thr | |
| XM_011529657.2:c.2284C>A | XP_011527959.1:p.Pro762Thr | |
| XM_011529658.2:c.2248C>A | XP_011527960.1:p.Pro750Thr | |
| NM_002772.3:c.2194C>A MANE Select | NP_002763.3:p.Pro732Thr |