Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086778G= , CM000673.2:g.112086778G= | GRCh38 |
| NC_000011.9:g.111957502G= , CM000673.1:g.111957502G= | GRCh37 |
| NC_000011.8:g.111462712G= | NCBI36 |
| NG_012337.2:g.4932G= | |
| NG_033145.1:g.5021C= | |
| NG_012337.3:g.4932G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375549.7:c.-130G= (SDHD) | ENSP00000364699.3:n.-130G= | |
| ENST00000504148.2:c.-55C= (TIMM8B) | ENSP00000422122.2:n.-55C= | |
| ENST00000509359.6:c.-55C= (TIMM8B) | ENSP00000421964.2:n.-55C= | |
| ENST00000541231.1:c.-10C= (TIMM8B) | ENSP00000438455.1:n.-10C= | |
| NM_012459.2:c.-10C= (TIMM8B) | NP_036591.2:n.-10C= | |
| NR_028383.1:n.21C= (TIMM8B) |