Linked Data
dbSNP Id:
rs779069752
ExAC:
2:26424018 C / T
gnomAD v2:
2-26424018-C-T
gnomAD v3:
2-26201149-C-T
gnomAD v4:
2-26201149-C-T
COSMIC:
COSM4689447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26201149C>T , CM000664.2:g.26201149C>T | GRCh38 |
| NC_000002.11:g.26424018C>T , CM000664.1:g.26424018C>T | GRCh37 |
| NC_000002.10:g.26277522C>T | NCBI36 |
| NG_007121.1:g.48472G>A | |
| NG_007121.2:g.48473G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1392G>A (HADHA) MANE Select | ENSP00000370023.3:p.Ala464= | |
| ENST00000492433.2:c.1392G>A (HADHA) | ENSP00000438039.2:p.Ala464= | |
| ENST00000643057.1:c.*1283G>A (HADHA) | ENSP00000493761.1:n.*1283G>A | |
| ENST00000643063.1:c.*438G>A (HADHA) | ENSP00000495353.1:n.*438G>A | |
| ENST00000643233.1:c.*1283G>A (HADHA) | ENSP00000493880.1:n.*1283G>A | |
| ENST00000644428.1:c.1392G>A (HADHA) | ENSP00000495560.1:p.Ala464= | |
| ENST00000645274.1:c.1287G>A (HADHA) | ENSP00000493996.1:p.Ala429= | |
| ENST00000646031.1:c.751G>A (HADHA) | ||
| ENST00000646483.1:c.1258G>A (HADHA) | ENSP00000496185.1:n.1258G>A | |
| ENST00000380649.7:c.1392G>A (HADHA) | ENSP00000370023.3:p.Ala464= | |
| NM_000182.4:c.1392G>A (HADHA) | NP_000173.2:p.Ala464= | |
| XM_011532567.1:c.1684-1084C>T (GAREM2) | XP_011530869.1:n.1684-1084C>T | |
| XM_011532567.3:c.1684-1084C>T (GAREM2) | XP_011530869.1:n.1684-1084C>T | |
| NM_000182.5:c.1392G>A (HADHA) MANE Select | NP_000173.2:p.Ala464= |