Revel Score:
ENST00000217740 (MANE Select)
0.205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.32018887C>A , CM000680.2:g.32018887C>A | GRCh38 |
| NC_000018.9:g.29598850C>A , CM000680.1:g.29598850C>A | GRCh37 |
| NC_000018.8:g.27852848C>A | NCBI36 |
| NG_042056.1:g.5406C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217740.4:c.24C>A MANE Select | ENSP00000217740.3:p.Asp8Glu | |
| ENST00000217740.3:c.24C>A | ENSP00000217740.3:p.Asp8Glu | |
| NM_017831.3:c.24C>A | NP_060301.2:p.Asp8Glu | |
| XM_011526045.1:c.24C>A | XP_011524347.1:p.Asp8Glu | |
| XM_011526046.1:c.24C>A | XP_011524348.1:p.Asp8Glu | |
| XM_011526047.1:c.24C>A | XP_011524349.1:p.Asp8Glu | |
| XM_011526045.3:c.24C>A | XP_011524347.1:p.Asp8Glu | |
| XM_011526046.3:c.24C>A | XP_011524348.1:p.Asp8Glu | |
| XM_011526047.3:c.24C>A | XP_011524349.1:p.Asp8Glu | |
| NM_017831.4:c.24C>A MANE Select | NP_060301.2:p.Asp8Glu |