Revel Score:
ENST00000522368
0.543
ENST00000251810 (MANE Select)
0.611
ENST00000535248
0.611
ENST00000395912
0.611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102224909G>C , CM000670.2:g.102224909G>C | GRCh38 |
| NC_000008.10:g.103237137G>C , CM000670.1:g.103237137G>C | GRCh37 |
| NC_000008.9:g.103306313G>C | NCBI36 |
| NG_016617.1:g.19210C>G , LRG_788:g.19210C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.431C>G MANE Select | ENSP00000251810.3:p.Thr144Ser | |
| ENST00000251810.7:c.431C>G | ENSP00000251810.3:p.Thr144Ser | |
| ENST00000395912.6:c.275C>G | ENSP00000379248.2:p.Thr92Ser | |
| ENST00000519317.5:c.49-10751C>G | ENSP00000430641.1:n.49-10751C>G | |
| ENST00000519962.5:c.48+13918C>G | ENSP00000429140.1:n.48+13918C>G | |
| ENST00000522368.5:c.600C>G | ||
| ENST00000522394.1:c.122+7322C>G | ENSP00000429578.1:n.122+7322C>G | |
| ENST00000621845.1:c.269C>G | ENSP00000484318.1:p.Thr90Ser | |
| NM_001172477.1:c.647C>G , LRG_788t1:c.647C>G | NP_001165948.1:p.Thr216Ser | |
| NM_001172478.1:c.275C>G | NP_001165949.1:p.Thr92Ser | |
| NM_015713.4:c.431C>G , LRG_788t2:c.431C>G | NP_056528.2:p.Thr144Ser | |
| NM_001172478.2:c.275C>G | NP_001165949.1:p.Thr92Ser | |
| NM_015713.5:c.431C>G MANE Select | NP_056528.2:p.Thr144Ser |