Linked Data
ClinVar Variation Id:
2191903
ClinVar RCV Id:
RCV002620841
dbSNP Id:
rs886467974
gnomAD v2:
2-26417963-T-C
gnomAD v3:
2-26195094-T-C
gnomAD v4:
2-26195094-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195094T>C , CM000664.2:g.26195094T>C | GRCh38 |
| NC_000002.11:g.26417963T>C , CM000664.1:g.26417963T>C | GRCh37 |
| NC_000002.10:g.26271467T>C | NCBI36 |
| NG_007121.1:g.54527A>G | |
| NG_007121.2:g.54528A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1618A>G (HADHA) MANE Select | ENSP00000370023.3:p.Lys540Glu | |
| ENST00000492433.2:c.1618A>G (HADHA) | ENSP00000438039.2:p.Lys540Glu | |
| ENST00000643057.1:c.*1509A>G (HADHA) | ENSP00000493761.1:n.*1509A>G | |
| ENST00000643063.1:c.*664A>G (HADHA) | ENSP00000495353.1:n.*664A>G | |
| ENST00000643233.1:c.*1509A>G (HADHA) | ENSP00000493880.1:n.*1509A>G | |
| ENST00000644428.1:c.*242A>G (HADHA) | ENSP00000495560.1:n.*242A>G | |
| ENST00000645274.1:c.1513A>G (HADHA) | ENSP00000493996.1:p.Lys505Glu | |
| ENST00000646031.1:c.977A>G (HADHA) | ||
| ENST00000646483.1:c.1484A>G (HADHA) | ENSP00000496185.1:n.1484A>G | |
| ENST00000380649.7:c.1618A>G (HADHA) | ENSP00000370023.3:p.Lys540Glu | |
| ENST00000492433.1:c.76A>G (HADHA) | ENSP00000438039.1:p.Lys26Glu | |
| NM_000182.4:c.1618A>G (HADHA) | NP_000173.2:p.Lys540Glu | |
| XM_011532567.1:c.1684-7139T>C (GAREM2) | XP_011530869.1:n.1684-7139T>C | |
| XM_011532567.3:c.1684-7139T>C (GAREM2) | XP_011530869.1:n.1684-7139T>C | |
| NM_000182.5:c.1618A>G (HADHA) MANE Select | NP_000173.2:p.Lys540Glu |