Revel Score:
ENST00000268638 (MANE Select)
0.388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85903024C>A , CM000678.2:g.85903024C>A | GRCh38 |
| NC_000016.9:g.85936630C>A , CM000678.1:g.85936630C>A | GRCh37 |
| NC_000016.8:g.84494131C>A | NCBI36 |
| NG_029333.1:g.8857C>A , LRG_294:g.8857C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564803.6:c.9C>A | ENSP00000456992.2:p.Asp3Glu | |
| ENST00000566369.2:c.9C>A | ENSP00000455048.2:p.Asp3Glu | |
| ENST00000696884.1:c.9C>A | ENSP00000512951.1:p.Asp3Glu | |
| ENST00000696885.1:c.9C>A | ENSP00000512952.1:p.Asp3Glu | |
| ENST00000696886.1:n.59C>A | ||
| ENST00000696887.1:c.9C>A | ENSP00000512953.1:p.Asp3Glu | |
| ENST00000696888.1:n.58C>A | ||
| ENST00000696889.1:n.2C>A | ||
| ENST00000268638.10:c.9C>A MANE Select | ENSP00000268638.4:p.Asp3Glu | |
| ENST00000268638.9:c.9C>A | ENSP00000268638.4:p.Asp3Glu | |
| ENST00000563180.1:c.9C>A | ENSP00000458047.1:p.Asp3Glu | |
| ENST00000564617.5:c.9C>A | ENSP00000455784.1:p.Asp3Glu | |
| ENST00000564803.5:c.9C>A | ENSP00000456992.1:p.Asp3Glu | |
| ENST00000565552.1:c.9C>A | ENSP00000455816.1:p.Asp3Glu | |
| ENST00000570088.1:n.46C>A | ||
| NM_002163.2:c.9C>A , LRG_294t1:c.9C>A | NP_002154.1:p.Asp3Glu | |
| NM_001363907.1:c.39C>A | NP_001350836.1:p.Asp13Glu | |
| NM_001363908.1:c.-498C>A | NP_001350837.1:n.-498C>A | |
| NM_002163.3:c.9C>A | NP_002154.1:p.Asp3Glu | |
| NM_002163.4:c.9C>A MANE Select | NP_002154.1:p.Asp3Glu |