Linked Data
ClinVar Variation Id:
383040
dbSNP Id:
rs762778582
ExAC:
11:67800379 C / T
gnomAD v2:
11-67800379-C-T
gnomAD v3:
11-68032912-C-T
gnomAD v4:
11-68032912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68032912C>T , CM000673.2:g.68032912C>T | GRCh38 |
| NC_000011.9:g.67800379C>T , CM000673.1:g.67800379C>T | GRCh37 |
| NC_000011.8:g.67556955C>T | NCBI36 |
| NG_017040.1:g.7296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.110-11C>T (NDUFS8) MANE Select | ENSP00000315774.5:n.110-11C>T | |
| ENST00000313468.9:c.110-11C>T (NDUFS8) | ENSP00000315774.5:n.110-11C>T | |
| ENST00000432321.6:n.227-11C>T (NDUFS8) | ||
| ENST00000453471.6:c.110-11C>T (NDUFS8) | ENSP00000403972.2:n.110-11C>T | |
| ENST00000525419.5:c.56-11C>T (NDUFS8) | ENSP00000433521.1:n.56-11C>T | |
| ENST00000525628.1:c.110-11C>T (NDUFS8) | ENSP00000432968.1:n.110-11C>T | |
| ENST00000526339.5:c.110-11C>T (NDUFS8) | ENSP00000436287.1:n.110-11C>T | |
| ENST00000526446.5:c.*165-11C>T (NDUFS8) | ENSP00000433645.1:n.*165-11C>T | |
| ENST00000528492.1:c.-67+2179C>T (NDUFS8) | ENSP00000432848.1:n.-67+2179C>T | |
| ENST00000529645.1:c.288-11C>T (NDUFS8) | ENSP00000431293.1:n.288-11C>T | |
| ENST00000531228.1:c.165-11C>T (NDUFS8) | ENSP00000433054.1:n.165-11C>T | |
| ENST00000532399.1:n.706C>T (NDUFS8) | ||
| NM_002496.3:c.110-11C>T (NDUFS8) | NP_002487.1:n.110-11C>T | |
| NR_106963.1:n.49C>T (MIR7113) | ||
| XM_005274013.1:c.110-11C>T (NDUFS8) | XP_005274070.1:n.110-11C>T | |
| XM_005274014.1:c.110-11C>T (NDUFS8) | XP_005274071.1:n.110-11C>T | |
| XM_005274015.1:c.-11-11C>T (NDUFS8) | XP_005274072.1:n.-11-11C>T | |
| XM_011545053.1:c.110-11C>T (NDUFS8) | XP_011543355.1:n.110-11C>T | |
| NM_002496.4:c.110-11C>T (NDUFS8) MANE Select | NP_002487.1:n.110-11C>T |