Revel Score:
ENST00000375815
0.978
ENST00000375820 (MANE Select)
0.978
ENST00000397198
0.978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110175294C>T , CM000675.2:g.110175294C>T | GRCh38 |
| NC_000013.10:g.110827641C>T , CM000675.1:g.110827641C>T | GRCh37 |
| NC_000013.9:g.109625642C>T | NCBI36 |
| NG_011544.2:g.136856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3122G>A MANE Select | ENSP00000364979.4:p.Gly1041Glu | |
| ENST00000375820.8:c.3122G>A | ENSP00000364979.4:p.Gly1041Glu | |
| NM_001845.5:c.3122G>A | NP_001836.3:p.Gly1041Glu | |
| XM_011521048.1:c.2930G>A | XP_011519350.1:p.Gly977Glu | |
| XM_011521048.2:c.2930G>A | XP_011519350.1:p.Gly977Glu | |
| NM_001845.6:c.3122G>A MANE Select | NP_001836.3:p.Gly1041Glu |