Revel Score:
ENST00000375815
0.953
ENST00000375820 (MANE Select)
0.953
ENST00000397198
0.953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110152419C>T , CM000675.2:g.110152419C>T | GRCh38 |
| NC_000013.10:g.110804766C>T , CM000675.1:g.110804766C>T | GRCh37 |
| NC_000013.9:g.109602767C>T | NCBI36 |
| NG_011544.2:g.159731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.4843G>A MANE Select | ENSP00000364979.4:p.Glu1615Lys | |
| ENST00000649720.1:n.1011G>A | ||
| ENST00000650424.1:c.999G>A | ||
| ENST00000375820.8:c.4843G>A | ENSP00000364979.4:p.Glu1615Lys | |
| NM_001845.5:c.4843G>A | NP_001836.3:p.Glu1615Lys | |
| XM_011521048.1:c.4651G>A | XP_011519350.1:p.Glu1551Lys | |
| XM_011521048.2:c.4651G>A | XP_011519350.1:p.Glu1551Lys | |
| NM_001845.6:c.4843G>A MANE Select | NP_001836.3:p.Glu1615Lys |