Revel Score:
ENST00000168216 (MANE Select)
0.946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53431801G>T , CM000685.2:g.53431801G>T | GRCh38 |
| NC_000023.10:g.53458749G>T , CM000685.1:g.53458749G>T | GRCh37 |
| NC_000023.9:g.53475474G>T | NCBI36 |
| NG_008153.1:g.7575C>A , LRG_450:g.7575C>A | |
| NG_033076.2:g.13947G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.712+24C>A | ||
| ENST00000682365.1:n.2138C>A | ||
| ENST00000684251.1:n.517C>A | ||
| ENST00000684503.1:n.757C>A | ||
| ENST00000684692.1:c.592C>A | ENSP00000506792.1:p.Pro198Thr | |
| ENST00000168216.11:c.592C>A MANE Select | ENSP00000168216.6:p.Pro198Thr | |
| ENST00000168216.10:c.592C>A | ENSP00000168216.6:p.Pro198Thr | |
| ENST00000375298.4:c.486+187C>A | ENSP00000364447.4:n.486+187C>A | |
| ENST00000375304.9:c.568+24C>A | ENSP00000364453.5:n.568+24C>A | |
| ENST00000477706.1:n.219+173C>A | ||
| NM_001037811.2:c.568+24C>A , LRG_450t2:c.568+24C>A | NP_001032900.1:n.568+24C>A | |
| NM_004493.2:c.592C>A , LRG_450t1:c.592C>A | NP_004484.1:p.Pro198Thr | |
| NM_004493.3:c.592C>A MANE Select | NP_004484.1:p.Pro198Thr |