Revel Score:
ENST00000261024 (MANE Select)
0.988
ENST00000427241
0.988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189571759T>A , CM000664.2:g.189571759T>A | GRCh38 |
| NC_000002.11:g.190436485T>A , CM000664.1:g.190436485T>A | GRCh37 |
| NC_000002.10:g.190144730T>A | NCBI36 |
| NG_009027.1:g.14053A>T , LRG_837:g.14053A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.470A>T MANE Select | ENSP00000261024.3:p.Asp157Val | |
| ENST00000261024.6:c.470A>T | ENSP00000261024.2:p.Asp157Val | |
| ENST00000427241.5:c.470A>T | ENSP00000390005.1:p.Asp157Val | |
| NM_014585.5:c.470A>T , LRG_837t1:c.470A>T | NP_055400.1:p.Asp157Val | |
| XM_005246505.1:c.350A>T | XP_005246562.1:p.Asp117Val | |
| XM_005246505.2:c.350A>T | XP_005246562.1:p.Asp117Val | |
| XM_017003938.2:c.350A>T | XP_016859427.1:p.Asp117Val | |
| NM_014585.6:c.470A>T MANE Select | NP_055400.1:p.Asp157Val |