Linked Data
ClinVar Variation Id:
351228
ClinVar RCV Id:
RCV000329989
dbSNP Id:
rs886060016
gnomAD v2:
5-140027219-G-T
gnomAD v3:
5-140647634-G-T
gnomAD v4:
5-140647634-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140647634G>T , CM000667.2:g.140647634G>T | GRCh38 |
| NC_000005.9:g.140027219G>T , CM000667.1:g.140027219G>T | GRCh37 |
| NC_000005.8:g.140007403G>T | NCBI36 |
| NG_021417.1:g.5152C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252102.8:c.-51C>A (NDUFA2) | ENSP00000252102.4:n.-51C>A | |
| ENST00000502960.1:n.138C>A (NDUFA2) | ||
| ENST00000512088.1:c.-51C>A (NDUFA2) | ENSP00000427220.1:n.-51C>A | |
| ENST00000513256.5:c.4+325G>T (IK) | ENSP00000425564.1:n.4+325G>T | |
| NM_001185012.1:c.-51C>A (NDUFA2) | NP_001171941.1:n.-51C>A | |
| NM_002488.4:c.-51C>A (NDUFA2) | NP_002479.1:n.-51C>A | |
| NR_033697.1:n.152C>A (NDUFA2) |