Linked Data
dbSNP Id:
rs17290760
gnomAD v2:
9-32556380-A-G
gnomAD v3:
9-32556382-A-G
gnomAD v4:
9-32556382-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32556382A>G , CM000671.2:g.32556382A>G | GRCh38 |
| NC_000009.11:g.32556380A>G , CM000671.1:g.32556380A>G | GRCh37 |
| NC_000009.10:g.32546380A>G | NCBI36 |
| NG_011511.1:g.21803T>C | |
| NG_017050.1:g.1243T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379847.8:c.319-2438T>C (NDUFB6) MANE Select | ENSP00000369176.3:n.319-2438T>C | |
| ENST00000425533.1:n.132+3903A>G (SMIM27) | ||
| ENST00000451672.2:c.45+3903A>G (SMIM27) | ENSP00000414891.2:n.45+3903A>G | |
| ENST00000350021.2:c.274-2438T>C (NDUFB6) | ENSP00000297983.3:n.274-2438T>C | |
| ENST00000366466.5:c.226-2438T>C (NDUFB6) | ENSP00000482941.1:n.226-2438T>C | |
| ENST00000379847.7:c.319-2438T>C (NDUFB6) | ENSP00000369176.3:n.319-2438T>C | |
| NM_001199987.1:c.226-2438T>C (NDUFB6) | NP_001186916.1:n.226-2438T>C | |
| NM_002493.4:c.319-2438T>C (NDUFB6) | NP_002484.1:n.319-2438T>C | |
| NM_182739.2:c.274-2438T>C (NDUFB6) | NP_877416.1:n.274-2438T>C | |
| NR_102376.1:n.246+3903A>G (SMIM27) | ||
| NR_102377.1:n.246+3903A>G (SMIM27) | ||
| NR_146061.1:n.246+3903A>G (SMIM27) | ||
| NR_146063.1:n.246+3903A>G (SMIM27) | ||
| NM_002493.5:c.319-2438T>C (NDUFB6) MANE Select | NP_002484.1:n.319-2438T>C | |
| NM_182739.3:c.274-2438T>C (NDUFB6) | NP_877416.1:n.274-2438T>C | |
| NM_001199987.2:c.226-2438T>C (NDUFB6) | NP_001186916.1:n.226-2438T>C |