Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086783C= , CM000673.2:g.112086783C= | GRCh38 |
| NC_000011.9:g.111957507C= , CM000673.1:g.111957507C= | GRCh37 |
| NC_000011.8:g.111462717C= | NCBI36 |
| NG_012337.2:g.4937C= | |
| NG_033145.1:g.5016G= | |
| NG_012337.3:g.4937C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375549.7:c.-125C= (SDHD) | ENSP00000364699.3:n.-125C= | |
| ENST00000504148.2:c.-60G= (TIMM8B) | ENSP00000422122.2:n.-60G= | |
| ENST00000509359.6:c.-60G= (TIMM8B) | ENSP00000421964.2:n.-60G= | |
| ENST00000541231.1:c.-15G= (TIMM8B) | ENSP00000438455.1:n.-15G= | |
| NM_012459.2:c.-15G= (TIMM8B) | NP_036591.2:n.-15G= | |
| NR_028383.1:n.16G= (TIMM8B) |