Linked Data
ClinVar Variation Id:
100085
ClinVar RCV Id:
RCV000009267
RCV000009266
RCV000174836
RCV000185933
RCV000624767
RCV000535911
RCV000778608
RCV001001910
dbSNP Id:
rs137852769
ExAC:
2:26418053 C / G
gnomAD v2:
2-26418053-C-G
gnomAD v3:
2-26195184-C-G
gnomAD v4:
2-26195184-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195184C>G , CM000664.2:g.26195184C>G | GRCh38 |
| NC_000002.11:g.26418053C>G , CM000664.1:g.26418053C>G | GRCh37 |
| NC_000002.10:g.26271557C>G | NCBI36 |
| NG_007121.1:g.54437G>C | |
| NG_007121.2:g.54438G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1528G>C (HADHA) MANE Select | ENSP00000370023.3:p.Glu510Gln | |
| ENST00000492433.2:c.1528G>C (HADHA) | ENSP00000438039.2:p.Glu510Gln | |
| ENST00000643057.1:c.*1419G>C (HADHA) | ENSP00000493761.1:n.*1419G>C | |
| ENST00000643063.1:c.*574G>C (HADHA) | ENSP00000495353.1:n.*574G>C | |
| ENST00000643233.1:c.*1419G>C (HADHA) | ENSP00000493880.1:n.*1419G>C | |
| ENST00000644428.1:c.*152G>C (HADHA) | ENSP00000495560.1:n.*152G>C | |
| ENST00000645274.1:c.1423G>C (HADHA) | ENSP00000493996.1:p.Glu475Gln | |
| ENST00000646031.1:c.887G>C (HADHA) | ||
| ENST00000646483.1:c.1394G>C (HADHA) | ENSP00000496185.1:n.1394G>C | |
| ENST00000380649.7:c.1528G>C (HADHA) | ENSP00000370023.3:p.Glu510Gln | |
| NM_000182.4:c.1528G>C (HADHA) | NP_000173.2:p.Glu510Gln | |
| XM_011532567.1:c.1684-7049C>G (GAREM2) | XP_011530869.1:n.1684-7049C>G | |
| XM_011532567.3:c.1684-7049C>G (GAREM2) | XP_011530869.1:n.1684-7049C>G | |
| NM_000182.5:c.1528G>C (HADHA) MANE Select | NP_000173.2:p.Glu510Gln |