Revel Score:
ENST00000340650 (MANE Select)
0.622
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00336607 (EAS)
Genomes Max Group AF
0.00210054 (EAS)
Exomes Max Group AF
0.00340309 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122129A>G , CM000668.2:g.18122129A>G | GRCh38 |
| NC_000006.11:g.18122360A>G , CM000668.1:g.18122360A>G | GRCh37 |
| NC_000006.10:g.18230339A>G | NCBI36 |
| NG_016750.1:g.5492T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.478T>C MANE Select | ENSP00000345464.3:p.Cys160Arg | |
| ENST00000340650.4:c.478T>C | ENSP00000345464.3:p.Cys160Arg | |
| NM_198586.2:c.478T>C | NP_940988.2:p.Cys160Arg | |
| NM_198586.3:c.478T>C MANE Select | NP_940988.2:p.Cys160Arg |