Revel Score:
ENST00000251595 (MANE Select)
0.942
ENST00000534957
0.942
ENST00000397806
0.942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173589A>G , CM000678.2:g.173589A>G | GRCh38 |
| NC_000016.9:g.223588A>G , CM000678.1:g.223588A>G | GRCh37 |
| NC_000016.8:g.163588A>G | NCBI36 |
| NG_000006.1:g.34452A>G | |
| NG_059186.1:g.1939A>G | |
| NG_059271.1:g.5743A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.418A>G MANE Select | ENSP00000251595.6:p.Lys140Glu | |
| ENST00000251595.10:c.418A>G | ENSP00000251595.6:p.Lys140Glu | |
| ENST00000397806.1:c.322A>G | ENSP00000380908.1:p.Lys108Glu | |
| ENST00000482565.1:n.554A>G | ||
| NM_000517.4:c.418A>G | NP_000508.1:p.Lys140Glu | |
| NM_000517.6:c.418A>G MANE Select | NP_000508.1:p.Lys140Glu |