Revel Score:
ENST00000251810 (MANE Select)
0.972
ENST00000535248
0.972
ENST00000395912
0.972
ENST00000522368
0.944
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218915C>T , CM000670.2:g.102218915C>T | GRCh38 |
| NC_000008.10:g.103231143C>T , CM000670.1:g.103231143C>T | GRCh37 |
| NC_000008.9:g.103300319C>T | NCBI36 |
| NG_016617.1:g.25204G>A , LRG_788:g.25204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.583G>A MANE Select | ENSP00000251810.3:p.Gly195Arg | |
| ENST00000251810.7:c.583G>A | ENSP00000251810.3:p.Gly195Arg | |
| ENST00000395912.6:c.427G>A | ENSP00000379248.2:p.Gly143Arg | |
| ENST00000519125.1:n.101G>A | ||
| ENST00000519317.5:c.49-4757G>A | ENSP00000430641.1:n.49-4757G>A | |
| ENST00000519962.5:c.49-10630G>A | ENSP00000429140.1:n.49-10630G>A | |
| ENST00000522368.5:c.752G>A | ||
| ENST00000522394.1:c.123-6026G>A | ENSP00000429578.1:n.123-6026G>A | |
| ENST00000621845.1:c.421G>A | ENSP00000484318.1:p.Gly141Arg | |
| NM_001172477.1:c.799G>A , LRG_788t1:c.799G>A | NP_001165948.1:p.Gly267Arg | |
| NM_001172478.1:c.427G>A | NP_001165949.1:p.Gly143Arg | |
| NM_015713.4:c.583G>A , LRG_788t2:c.583G>A | NP_056528.2:p.Gly195Arg | |
| NM_001172478.2:c.427G>A | NP_001165949.1:p.Gly143Arg | |
| NM_015713.5:c.583G>A MANE Select | NP_056528.2:p.Gly195Arg |