Revel Score:
ENST00000370274 (MANE Select)
0.837
ENST00000440023
0.837
ENST00000432467
0.837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152867611G>A , CM000685.2:g.152867611G>A | GRCh38 |
| NC_000023.10:g.152036155G>A , CM000685.1:g.152036155G>A | GRCh37 |
| NC_000023.9:g.151786811G>A | NCBI36 |
| NG_009163.1:g.41645G>A | |
| NG_009163.2:g.41645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370274.8:c.727G>A MANE Select | ENSP00000359297.3:p.Val243Met | |
| ENST00000370274.7:c.727G>A | ENSP00000359297.3:p.Val243Met | |
| ENST00000432467.1:c.727G>A | ENSP00000396266.1:p.Val243Met | |
| ENST00000440023.5:c.727G>A | ENSP00000391854.1:p.Val243Met | |
| NM_001129765.1:c.727G>A | NP_001123237.1:p.Val243Met | |
| NM_015922.2:c.727G>A | NP_057006.1:p.Val243Met | |
| XM_011531178.1:c.727G>A | XP_011529480.1:p.Val243Met | |
| XM_011531178.2:c.727G>A | XP_011529480.1:p.Val243Met | |
| XM_017029564.1:c.775G>A | XP_016885053.1:p.Val259Met | |
| NM_015922.3:c.727G>A MANE Select | NP_057006.1:p.Val243Met | |
| NM_001129765.2:c.727G>A | NP_001123237.1:p.Val243Met |