Linked Data
gnomAD v4:
5-140647645-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140647645C>A , CM000667.2:g.140647645C>A | GRCh38 |
| NC_000005.9:g.140027230C>A , CM000667.1:g.140027230C>A | GRCh37 |
| NC_000005.8:g.140007414C>A | NCBI36 |
| NG_021417.1:g.5141G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252102.8:c.-62G>T (NDUFA2) | ENSP00000252102.4:n.-62G>T | |
| ENST00000502960.1:n.127G>T (NDUFA2) | ||
| ENST00000512088.1:c.-62G>T (NDUFA2) | ENSP00000427220.1:n.-62G>T | |
| ENST00000513256.5:c.4+336C>A (IK) | ENSP00000425564.1:n.4+336C>A | |
| NM_001185012.1:c.-62G>T (NDUFA2) | NP_001171941.1:n.-62G>T | |
| NM_002488.4:c.-62G>T (NDUFA2) | NP_002479.1:n.-62G>T | |
| NR_033697.1:n.141G>T (NDUFA2) |