Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086787G>A , CM000673.2:g.112086787G>A | GRCh38 |
| NC_000011.9:g.111957511G>A , CM000673.1:g.111957511G>A | GRCh37 |
| NC_000011.8:g.111462721G>A | NCBI36 |
| NG_012337.2:g.4941G>A | |
| NG_033145.1:g.5012C>T | |
| NG_012337.3:g.4941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375549.7:c.-121G>A (SDHD) | ENSP00000364699.3:n.-121G>A | |
| ENST00000504148.2:c.-64C>T (TIMM8B) | ENSP00000422122.2:n.-64C>T | |
| ENST00000509359.6:c.-64C>T (TIMM8B) | ENSP00000421964.2:n.-64C>T | |
| ENST00000541231.1:c.-19C>T (TIMM8B) | ENSP00000438455.1:n.-19C>T | |
| NM_012459.2:c.-19C>T (TIMM8B) | NP_036591.2:n.-19C>T | |
| NR_028383.1:n.12C>T (TIMM8B) |