Linked Data
ClinVar Variation Id:
2194709
ClinVar RCV Id:
RCV002647488
dbSNP Id:
rs910748458
gnomAD v2:
2-26424003-C-T
gnomAD v3:
2-26201134-C-T
gnomAD v4:
2-26201134-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26201134C>T , CM000664.2:g.26201134C>T | GRCh38 |
| NC_000002.11:g.26424003C>T , CM000664.1:g.26424003C>T | GRCh37 |
| NC_000002.10:g.26277507C>T | NCBI36 |
| NG_007121.1:g.48487G>A | |
| NG_007121.2:g.48488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1392+15G>A (HADHA) MANE Select | ENSP00000370023.3:n.1392+15G>A | |
| ENST00000492433.2:c.1392+15G>A (HADHA) | ENSP00000438039.2:n.1392+15G>A | |
| ENST00000643057.1:c.*1283+15G>A (HADHA) | ENSP00000493761.1:n.*1283+15G>A | |
| ENST00000643063.1:c.*438+15G>A (HADHA) | ENSP00000495353.1:n.*438+15G>A | |
| ENST00000643233.1:c.*1283+15G>A (HADHA) | ENSP00000493880.1:n.*1283+15G>A | |
| ENST00000644428.1:c.1392+15G>A (HADHA) | ENSP00000495560.1:n.1392+15G>A | |
| ENST00000645274.1:c.1287+15G>A (HADHA) | ENSP00000493996.1:n.1287+15G>A | |
| ENST00000646031.1:c.751+15G>A (HADHA) | ||
| ENST00000646483.1:c.1258+15G>A (HADHA) | ENSP00000496185.1:n.1258+15G>A | |
| ENST00000380649.7:c.1392+15G>A (HADHA) | ENSP00000370023.3:n.1392+15G>A | |
| NM_000182.4:c.1392+15G>A (HADHA) | NP_000173.2:n.1392+15G>A | |
| XM_011532567.1:c.1684-1099C>T (GAREM2) | XP_011530869.1:n.1684-1099C>T | |
| XM_011532567.3:c.1684-1099C>T (GAREM2) | XP_011530869.1:n.1684-1099C>T | |
| NM_000182.5:c.1392+15G>A (HADHA) MANE Select | NP_000173.2:n.1392+15G>A |