Revel Score:
ENST00000322344 (MANE Select)
0.571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49862432G>C , CM000681.2:g.49862432G>C | GRCh38 |
| NC_000019.9:g.50365689G>C , CM000681.1:g.50365689G>C | GRCh37 |
| NC_000019.8:g.55057501G>C | NCBI36 |
| NG_027717.1:g.10134C>G | |
| NG_050666.1:g.18589G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.968C>G MANE Select | ENSP00000323511.2:p.Thr323Arg | |
| ENST00000322344.7:c.968C>G | ENSP00000323511.2:p.Thr323Arg | |
| ENST00000593706.3:n.323C>G | ||
| ENST00000593946.5:c.*895C>G | ENSP00000468896.1:n.*895C>G | |
| ENST00000594661.5:n.1469C>G | ||
| ENST00000596014.5:c.968C>G | ENSP00000472300.1:p.Thr323Arg | |
| ENST00000600573.5:c.936+106C>G | ENSP00000469826.1:n.936+106C>G | |
| ENST00000600910.5:c.968C>G | ENSP00000473137.1:p.Thr323Arg | |
| ENST00000625216.2:c.146C>G | ENSP00000486898.1:p.Thr49Arg | |
| ENST00000627232.2:c.888C>G | ENSP00000486037.1:n.888C>G | |
| ENST00000627317.1:c.589C>G | ||
| ENST00000629179.1:n.739C>G | ||
| ENST00000631020.2:c.860C>G | ENSP00000486707.1:p.Thr287Arg | |
| NM_007254.3:c.968C>G | NP_009185.2:p.Thr323Arg | |
| NM_007254.4:c.968C>G MANE Select | NP_009185.2:p.Thr323Arg |