Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1801406C>T , CM000667.2:g.1801406C>T | GRCh38 |
| NC_000005.9:g.1801520C>T , CM000667.1:g.1801520C>T | GRCh37 |
| NC_000005.8:g.1854520C>T | NCBI36 |
| NG_013354.1:g.5025C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004553.4:c.-12C>T (NDUFS6) | NP_004544.1:n.-12C>T |
| ENST00000274137.9:c.-12C>T (NDUFS6) | ENSP00000274137.5:n.-12C>T |
| XM_011514080.1:c.-40G>A (MRPL36) | XP_011512382.1:n.-40G>A |
| XM_011514080.2:c.-40G>A (MRPL36) | XP_011512382.1:n.-40G>A |