gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9760963 (EAS)
Genomes Max Group AF
0.9760963 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95107844A>G , CM000670.2:g.95107844A>G | GRCh38 |
| NC_000008.10:g.96120072A>G , CM000670.1:g.96120072A>G | GRCh37 |
| NC_000008.9:g.96189248A>G | NCBI36 |
| NG_016647.2:g.217574A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523184.5:n.344+4833A>G (NDUFAF6) | ||
| XR_928428.1:n.361+4833A>G (MIR3150BHG) | ||
| NR_148913.1:n.971-1900A>G (NDUFAF6) | ||
| NR_148914.1:n.1168-1900A>G (NDUFAF6) | ||
| NR_148913.2:n.957-1900A>G (NDUFAF6) | ||
| NR_148914.2:n.1154-1900A>G (NDUFAF6) |