Linked Data
dbSNP Id:
rs555586706
ExAC:
11:111957508 A / G
gnomAD v2:
11-111957508-A-G
gnomAD v3:
11-112086784-A-G
gnomAD v4:
11-112086784-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086784A>G , CM000673.2:g.112086784A>G | GRCh38 |
| NC_000011.9:g.111957508A>G , CM000673.1:g.111957508A>G | GRCh37 |
| NC_000011.8:g.111462718A>G | NCBI36 |
| NG_012337.2:g.4938A>G | |
| NG_033145.1:g.5015T>C | |
| NG_012337.3:g.4938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375549.7:c.-124A>G (SDHD) | ENSP00000364699.3:n.-124A>G | |
| ENST00000504148.2:c.-61T>C (TIMM8B) | ENSP00000422122.2:n.-61T>C | |
| ENST00000509359.6:c.-61T>C (TIMM8B) | ENSP00000421964.2:n.-61T>C | |
| ENST00000541231.1:c.-16T>C (TIMM8B) | ENSP00000438455.1:n.-16T>C | |
| NM_012459.2:c.-16T>C (TIMM8B) | NP_036591.2:n.-16T>C | |
| NR_028383.1:n.15T>C (TIMM8B) |