Linked Data
ClinVar Variation Id:
335368
dbSNP Id:
rs886055860
gnomAD v3:
2-26190861-G-C
gnomAD v4:
2-26190861-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26190861G>C , CM000664.2:g.26190861G>C | GRCh38 |
| NC_000002.11:g.26413730G>C , CM000664.1:g.26413730G>C | GRCh37 |
| NC_000002.10:g.26267234G>C | NCBI36 |
| NG_007121.1:g.58760C>G | |
| NG_007121.2:g.58761C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.*389C>G (HADHA) MANE Select | ENSP00000370023.3:n.*389C>G | |
| ENST00000492433.2:c.*389C>G (HADHA) | ENSP00000438039.2:n.*389C>G | |
| ENST00000643057.1:c.*2659C>G (HADHA) | ENSP00000493761.1:n.*2659C>G | |
| ENST00000644428.1:c.*1305C>G (HADHA) | ENSP00000495560.1:n.*1305C>G | |
| ENST00000380649.7:c.*389C>G (HADHA) | ENSP00000370023.3:n.*389C>G | |
| NM_000182.4:c.*389C>G (HADHA) | NP_000173.2:n.*389C>G | |
| XM_011532567.1:c.1683+3546G>C (GAREM2) | XP_011530869.1:n.1683+3546G>C | |
| XM_011532567.3:c.1683+3546G>C (GAREM2) | XP_011530869.1:n.1683+3546G>C | |
| NM_000182.5:c.*389C>G (HADHA) MANE Select | NP_000173.2:n.*389C>G |