Revel Score:
ENST00000348749 (MANE Select)
0.529
ENST00000261007
0.529
ENST00000409542
0.529
ENST00000409219
0.529
ENST00000409323
0.529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174753659C>T , CM000664.2:g.174753659C>T | GRCh38 |
| NC_000002.11:g.175618387C>T , CM000664.1:g.175618387C>T | GRCh37 |
| NC_000002.10:g.175326633C>T | NCBI36 |
| NG_008172.1:g.15814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.133G>A | ENSP00000490338.2:p.Val45Met | |
| ENST00000672640.1:c.133G>A | ENSP00000500507.1:p.Val45Met | |
| ENST00000261007.9:c.697G>A | ENSP00000261007.5:p.Val233Met | |
| ENST00000348749.9:c.622G>A MANE Select | ENSP00000261008.5:p.Val208Met | |
| ENST00000409219.5:c.622G>A | ENSP00000386611.1:p.Val208Met | |
| ENST00000409323.1:c.622G>A | ENSP00000386684.1:p.Val208Met | |
| ENST00000409542.5:c.376G>A | ENSP00000387026.1:p.Val126Met | |
| ENST00000435083.5:c.*266G>A | ENSP00000395805.1:n.*266G>A | |
| NM_000079.3:c.622G>A | NP_000070.1:p.Val208Met | |
| NM_001039523.2:c.697G>A | NP_001034612.1:p.Val233Met | |
| XM_017003256.1:c.718G>A | XP_016858745.1:p.Val240Met | |
| XM_017003257.1:c.643G>A | XP_016858746.1:p.Val215Met | |
| NM_000079.4:c.622G>A MANE Select | NP_000070.1:p.Val208Met | |
| NM_001039523.3:c.697G>A | NP_001034612.1:p.Val233Met |