Revel Score:
ENST00000251810 (MANE Select)
0.968
ENST00000535248
0.968
ENST00000395912
0.968
ENST00000522368
0.862
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102224949C>T , CM000670.2:g.102224949C>T | GRCh38 |
| NC_000008.10:g.103237177C>T , CM000670.1:g.103237177C>T | GRCh37 |
| NC_000008.9:g.103306353C>T | NCBI36 |
| NG_016617.1:g.19170G>A , LRG_788:g.19170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.391G>A MANE Select | ENSP00000251810.3:p.Glu131Lys | |
| ENST00000251810.7:c.391G>A | ENSP00000251810.3:p.Glu131Lys | |
| ENST00000395912.6:c.235G>A | ENSP00000379248.2:p.Glu79Lys | |
| ENST00000519317.5:c.49-10791G>A | ENSP00000430641.1:n.49-10791G>A | |
| ENST00000519962.5:c.48+13878G>A | ENSP00000429140.1:n.48+13878G>A | |
| ENST00000522368.5:c.560G>A | ||
| ENST00000522394.1:c.122+7282G>A | ENSP00000429578.1:n.122+7282G>A | |
| ENST00000523957.1:c.*314G>A | ENSP00000427830.1:n.*314G>A | |
| ENST00000621845.1:c.229G>A | ENSP00000484318.1:p.Glu77Lys | |
| NM_001172477.1:c.607G>A , LRG_788t1:c.607G>A | NP_001165948.1:p.Glu203Lys | |
| NM_001172478.1:c.235G>A | NP_001165949.1:p.Glu79Lys | |
| NM_015713.4:c.391G>A , LRG_788t2:c.391G>A | NP_056528.2:p.Glu131Lys | |
| NM_001172478.2:c.235G>A | NP_001165949.1:p.Glu79Lys | |
| NM_015713.5:c.391G>A MANE Select | NP_056528.2:p.Glu131Lys |