Revel Score:
ENST00000520113 (MANE Select)
0.944
ENST00000369538
0.944
ENST00000353928
0.944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677912T>C , CM000663.2:g.114677912T>C | GRCh38 |
| NC_000001.10:g.115220533T>C , CM000663.1:g.115220533T>C | GRCh37 |
| NC_000001.9:g.115022056T>C | NCBI36 |
| NG_008012.1:g.22644A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1210A>G | ENSP00000358551.4:p.Lys404Glu | |
| ENST00000520113.7:c.1222A>G MANE Select | ENSP00000430075.3:p.Lys408Glu | |
| ENST00000637080.1:c.1005A>G | ENSP00000489753.1:n.1005A>G | |
| ENST00000639077.1:n.887A>G | ||
| ENST00000369538.3:c.1309A>G | ENSP00000358551.3:p.Lys437Glu | |
| ENST00000520113.6:c.1321A>G | ENSP00000430075.2:p.Lys441Glu | |
| NM_000036.2:c.1321A>G | NP_000027.2:p.Lys441Glu | |
| NM_001172626.1:c.1309A>G | NP_001166097.1:p.Lys437Glu | |
| NM_000036.3:c.1222A>G MANE Select | NP_000027.3:p.Lys408Glu | |
| NM_001172626.2:c.1210A>G | NP_001166097.2:p.Lys404Glu |