Revel Score:
ENST00000306107 (MANE Select)
0.062
ENST00000472644
0.062
ENST00000486979
0.062
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.105541676C>A , CM000665.2:g.105541676C>A | GRCh38 |
| NC_000003.11:g.105260520C>A , CM000665.1:g.105260520C>A | GRCh37 |
| NC_000003.10:g.106743210C>A | NCBI36 |
| NG_029729.1:g.179964C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306107.9:c.902C>A MANE Select | ENSP00000305988.5:p.Thr301Lys | |
| ENST00000465413.6:c.273-3547C>A | ||
| ENST00000472644.6:c.902C>A | ENSP00000419236.2:p.Thr301Lys | |
| ENST00000481337.5:n.1031C>A | ||
| ENST00000486979.6:c.749C>A | ENSP00000418213.2:p.Thr250Lys | |
| NM_001243280.1:c.902C>A | NP_001230209.1:p.Thr301Lys | |
| NM_001243281.1:c.902C>A | NP_001230210.1:p.Thr301Lys | |
| NM_001627.3:c.902C>A | NP_001618.2:p.Thr301Lys | |
| NM_001627.4:c.902C>A MANE Select | NP_001618.2:p.Thr301Lys | |
| NM_001243280.2:c.902C>A | NP_001230209.1:p.Thr301Lys | |
| NM_001243281.2:c.902C>A | NP_001230210.1:p.Thr301Lys |