Revel Score:
ENST00000367021 (MANE Select)
0.864
ENST00000542854
0.864
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209788614C>T , CM000663.2:g.209788614C>T | GRCh38 |
| NC_000001.10:g.209961959C>T , CM000663.1:g.209961959C>T | GRCh37 |
| NC_000001.9:g.208028582C>T | NCBI36 |
| NG_007081.2:g.22521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.1210G>A | ENSP00000512426.1:p.Glu404Lys | |
| ENST00000696134.1:c.*637G>A | ENSP00000512427.1:n.*637G>A | |
| ENST00000367021.8:c.1210G>A MANE Select | ENSP00000355988.3:p.Glu404Lys | |
| ENST00000643798.1:c.*720G>A | ENSP00000496669.1:n.*720G>A | |
| ENST00000367021.7:c.1210G>A | ENSP00000355988.3:p.Glu404Lys | |
| ENST00000542854.5:c.925G>A | ENSP00000440532.1:p.Glu309Lys | |
| NM_001206696.1:c.925G>A | NP_001193625.1:p.Glu309Lys | |
| NM_006147.3:c.1210G>A | NP_006138.1:p.Glu404Lys | |
| NM_006147.4:c.1210G>A MANE Select | NP_006138.1:p.Glu404Lys | |
| NM_001206696.2:c.925G>A | NP_001193625.1:p.Glu309Lys |