Revel Score:
ENST00000256906 (MANE Select)
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11838497 (AMR)
Genomes Max Group AF
0.09723926 (AMR)
Exomes Max Group AF
0.1245349 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24476802C>T , CM000680.2:g.24476802C>T | GRCh38 |
| NC_000018.9:g.22056766C>T , CM000680.1:g.22056766C>T | GRCh37 |
| NC_000018.8:g.20310764C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.413C>T MANE Select | ENSP00000256906.4:p.Ala138Val | |
| ENST00000256906.4:c.413C>T | ENSP00000256906.4:p.Ala138Val | |
| ENST00000426880.2:c.194-45C>T | ENSP00000402526.2:n.194-45C>T | |
| NM_001143828.1:c.194-45C>T | NP_001137300.1:n.194-45C>T | |
| NM_001160166.1:c.*45C>T | NP_001153638.1:n.*45C>T | |
| NM_021624.3:c.413C>T | NP_067637.2:p.Ala138Val | |
| XM_011526133.1:c.357+7851C>T | XP_011524435.1:n.357+7851C>T | |
| NM_021624.4:c.413C>T MANE Select | NP_067637.2:p.Ala138Val | |
| NM_001143828.2:c.194-45C>T | NP_001137300.1:n.194-45C>T | |
| NM_001160166.2:c.*45C>T | NP_001153638.1:n.*45C>T |