Revel Score:
ENST00000263774 (MANE Select)
0.758
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582140C>G , CM000673.2:g.47582140C>G | GRCh38 |
| NC_000011.9:g.47603692C>G , CM000673.1:g.47603692C>G | GRCh37 |
| NC_000011.8:g.47560268C>G | NCBI36 |
| NG_011946.1:g.8131C>G | |
| NG_011946.2:g.8131C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.434C>G MANE Select | ENSP00000263774.4:p.Thr145Ser | |
| ENST00000531351.2:n.1494C>G | ||
| ENST00000677462.1:n.2908C>G | ||
| ENST00000678975.1:n.2691C>G | ||
| ENST00000263774.8:c.434C>G | ENSP00000263774.4:p.Thr145Ser | |
| ENST00000524568.1:n.537C>G | ||
| ENST00000525212.1:n.89C>G | ||
| ENST00000525378.5:n.372C>G | ||
| ENST00000533507.5:n.1328C>G | ||
| NM_004551.2:c.434C>G | NP_004542.1:p.Thr145Ser | |
| NM_004551.3:c.434C>G MANE Select | NP_004542.1:p.Thr145Ser |