Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14069436C>A , CM000679.2:g.14069436C>A | GRCh38 |
| NC_000017.10:g.13972753C>A , CM000679.1:g.13972753C>A | GRCh37 |
| NC_000017.9:g.13913478C>A | NCBI36 |
| NG_008034.1:g.5035C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001303.3:c.-170C>A (COX10) | NP_001294.2:n.-170C>A | |
| NR_049718.1:n.23G>T (COX10-DT) |