Revel Score:
ENST00000402696 (MANE Select)
0.142
ENST00000264998
0.142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133777112A>G , CM000665.2:g.133777112A>G | GRCh38 |
| NC_000003.11:g.133495956A>G , CM000665.1:g.133495956A>G | GRCh37 |
| NC_000003.10:g.134978646A>G | NCBI36 |
| NG_013080.1:g.35980A>G | |
| NG_013080.2:g.120115A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1936A>G MANE Select | ENSP00000385834.3:p.Lys646Glu | |
| ENST00000402696.7:c.1936A>G | ENSP00000385834.3:p.Lys646Glu | |
| ENST00000461695.1:c.667A>G | ||
| ENST00000467842.1:n.2930A>G | ||
| NM_001063.3:c.1936A>G | NP_001054.1:p.Lys646Glu | |
| XM_011513100.1:c.1936A>G | XP_011511402.1:p.Lys646Glu | |
| NM_001354703.1:c.1804A>G | NP_001341632.1:p.Lys602Glu | |
| NM_001354704.1:c.1555A>G | NP_001341633.1:p.Lys519Glu | |
| NM_001063.4:c.1936A>G MANE Select | NP_001054.2:p.Lys646Glu | |
| NM_001354703.2:c.1804A>G | NP_001341632.2:p.Lys602Glu | |
| NM_001354704.2:c.1555A>G | NP_001341633.2:p.Lys519Glu |