Revel Score:
ENST00000251810 (MANE Select)
0.849
ENST00000535248
0.849
ENST00000395912
0.849
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001725 (NFE)
Exomes Max Group AF
0.00001747 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102224909G>A , CM000670.2:g.102224909G>A | GRCh38 |
| NC_000008.10:g.103237137G>A , CM000670.1:g.103237137G>A | GRCh37 |
| NC_000008.9:g.103306313G>A | NCBI36 |
| NG_016617.1:g.19210C>T , LRG_788:g.19210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.431C>T MANE Select | ENSP00000251810.3:p.Thr144Ile | |
| ENST00000251810.7:c.431C>T | ENSP00000251810.3:p.Thr144Ile | |
| ENST00000395912.6:c.275C>T | ENSP00000379248.2:p.Thr92Ile | |
| ENST00000519317.5:c.49-10751C>T | ENSP00000430641.1:n.49-10751C>T | |
| ENST00000519962.5:c.48+13918C>T | ENSP00000429140.1:n.48+13918C>T | |
| ENST00000522368.5:c.600C>T | ||
| ENST00000522394.1:c.122+7322C>T | ENSP00000429578.1:n.122+7322C>T | |
| ENST00000621845.1:c.269C>T | ENSP00000484318.1:p.Thr90Ile | |
| NM_001172477.1:c.647C>T , LRG_788t1:c.647C>T | NP_001165948.1:p.Thr216Ile | |
| NM_001172478.1:c.275C>T | NP_001165949.1:p.Thr92Ile | |
| NM_015713.4:c.431C>T , LRG_788t2:c.431C>T | NP_056528.2:p.Thr144Ile | |
| NM_001172478.2:c.275C>T | NP_001165949.1:p.Thr92Ile | |
| NM_015713.5:c.431C>T MANE Select | NP_056528.2:p.Thr144Ile |