Linked Data
dbSNP Id:
rs7000734
gnomAD v2:
8-96127030-G-A
gnomAD v3:
8-95114802-G-A
gnomAD v4:
8-95114802-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95114802G>A , CM000670.2:g.95114802G>A | GRCh38 |
| NC_000008.10:g.96127030G>A , CM000670.1:g.96127030G>A | GRCh37 |
| NC_000008.9:g.96196206G>A | NCBI36 |
| NG_016647.2:g.224532G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000523184.5:n.345-734G>A (NDUFAF6) | ||
| XR_928428.1:n.362-734G>A (MIR3150BHG) | ||
| NR_148913.1:n.1081-734G>A (NDUFAF6) | ||
| NR_148914.1:n.1278-734G>A (NDUFAF6) | ||
| NR_148913.2:n.1067-734G>A (NDUFAF6) | ||
| NR_148914.2:n.1264-734G>A (NDUFAF6) |