Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140647697A>T , CM000667.2:g.140647697A>T | GRCh38 |
| NC_000005.9:g.140027282A>T , CM000667.1:g.140027282A>T | GRCh37 |
| NC_000005.8:g.140007466A>T | NCBI36 |
| NG_021417.1:g.5089T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001185012.1:c.-114T>A (NDUFA2) | NP_001171941.1:n.-114T>A |
| NM_002488.4:c.-114T>A (NDUFA2) | NP_002479.1:n.-114T>A |
| NR_033697.1:n.89T>A (NDUFA2) | |
| ENST00000252102.8:c.-114T>A (NDUFA2) | ENSP00000252102.4:n.-114T>A |
| ENST00000502960.1:n.75T>A (NDUFA2) | |
| ENST00000513256.5:c.4+388A>T (IK) | ENSP00000425564.1:n.4+388A>T |