Revel Score:
ENST00000343257 (MANE Select)
0.198
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00433267 (EAS)
Genomes Max Group AF
0.00452831 (EAS)
Exomes Max Group AF
0.00413438 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143316351C>T , CM000669.2:g.143316351C>T | GRCh38 |
| NC_000007.13:g.143013444C>T , CM000669.1:g.143013444C>T | GRCh37 |
| NC_000007.12:g.142723566C>T | NCBI36 |
| NG_009815.1:g.5226C>T | |
| NG_009815.2:g.5226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.139C>T | ENSP00000498052.2:p.Arg47Trp | |
| ENST00000343257.7:c.139C>T MANE Select | ENSP00000339867.2:p.Arg47Trp | |
| ENST00000650516.1:c.139C>T | ENSP00000498052.1:p.Arg47Trp | |
| ENST00000343257.6:c.139C>T | ENSP00000339867.2:p.Arg47Trp | |
| NM_000083.2:c.139C>T | NP_000074.2:p.Arg47Trp | |
| NR_046453.1:n.226C>T | ||
| XM_011515781.1:c.139C>T | XP_011514083.1:p.Arg47Trp | |
| NM_000083.3:c.139C>T MANE Select | NP_000074.3:p.Arg47Trp | |
| NR_046453.2:n.241C>T |