Revel Score:
ENST00000244043 (MANE Select)
0.059
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03030514 (AFR)
Genomes Max Group AF
0.02829277 (AFR)
Exomes Max Group AF
0.03182746 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49547864A>T , CM000682.2:g.49547864A>T | GRCh38 |
| NC_000020.10:g.48164401A>T , CM000682.1:g.48164401A>T | GRCh37 |
| NC_000020.9:g.47597808A>T | NCBI36 |
| NG_007940.1:g.25307T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244043.5:c.354T>A MANE Select | ENSP00000244043.3:p.Ser118Arg | |
| ENST00000244043.4:c.354T>A | ENSP00000244043.3:p.Ser118Arg | |
| ENST00000478971.1:n.198+2202T>A | ||
| NM_000961.3:c.354T>A | NP_000952.1:p.Ser118Arg | |
| NM_000961.4:c.354T>A MANE Select | NP_000952.1:p.Ser118Arg |