Revel Score:
ENST00000263275 (MANE Select)
0.804
ENST00000544371
0.804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45553777C>T , CM000681.2:g.45553777C>T | GRCh38 |
| NC_000019.9:g.46057035C>T , CM000681.1:g.46057035C>T | GRCh37 |
| NC_000019.8:g.50748875C>T | NCBI36 |
| NG_013332.1:g.36088G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323060.4:c.143-24321G>A | ENSP00000319817.3:n.143-24321G>A | |
| ENST00000263275.5:c.277G>A MANE Select | ENSP00000263275.4:p.Gly93Ser | |
| ENST00000263275.4:c.277G>A | ENSP00000263275.3:p.Gly93Ser | |
| ENST00000323060.3:c.143-24321G>A | ENSP00000319817.3:n.143-24321G>A | |
| ENST00000544371.1:c.118G>A | ENSP00000442839.1:p.Gly40Ser | |
| NM_001017989.2:c.143-24321G>A | NP_001017989.2:n.143-24321G>A | |
| NM_025136.3:c.277G>A | NP_079412.1:p.Gly93Ser | |
| XM_005259278.2:c.118G>A | XP_005259335.1:p.Gly40Ser | |
| XM_006723403.2:c.118G>A | XP_006723466.1:p.Gly40Ser | |
| XM_011527348.1:c.-17-24321G>A | XP_011525650.1:n.-17-24321G>A | |
| XM_006723403.4:c.118G>A | XP_006723466.1:p.Gly40Ser | |
| NM_001017989.3:c.143-24321G>A | NP_001017989.2:n.143-24321G>A | |
| NM_025136.4:c.277G>A MANE Select | NP_079412.1:p.Gly93Ser |