Linked Data
ClinVar Variation Id:
293262
dbSNP Id:
rs3813623
gnomAD v2:
1-161169165-G-T
gnomAD v3:
1-161199375-G-T
gnomAD v4:
1-161199375-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161199375G>T , CM000663.2:g.161199375G>T | GRCh38 |
| NC_000001.10:g.161169165G>T , CM000663.1:g.161169165G>T | GRCh37 |
| NC_000001.9:g.159435789G>T | NCBI36 |
| NG_013352.1:g.5061G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676535.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000676600.1:c.-77+1888G>T (NDUFS2) | ENSP00000503989.1:n.-77+1888G>T | |
| ENST00000676653.1:n.77+1888G>T (NDUFS2) | ||
| ENST00000677081.1:c.-240+1888G>T (NDUFS2) | ENSP00000503728.1:n.-240+1888G>T | |
| ENST00000677138.1:c.-240+1888G>T (NDUFS2) | ENSP00000504839.1:n.-240+1888G>T | |
| ENST00000677178.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000677231.1:c.-240+1888G>T (NDUFS2) | ENSP00000503378.1:n.-240+1888G>T | |
| ENST00000677350.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000677383.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000677457.1:c.-240+1888G>T (NDUFS2) | ENSP00000503294.1:n.-240+1888G>T | |
| ENST00000677547.1:c.-240+1888G>T (NDUFS2) | ENSP00000504269.1:n.-240+1888G>T | |
| ENST00000677550.1:c.-240+1888G>T (NDUFS2) | ENSP00000503353.1:n.-240+1888G>T | |
| ENST00000677579.1:c.-240+1888G>T (NDUFS2) | ENSP00000504162.1:n.-240+1888G>T | |
| ENST00000677613.1:c.-240+1888G>T (NDUFS2) | ENSP00000504258.1:n.-240+1888G>T | |
| ENST00000677807.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000677809.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000677846.1:c.-240+1888G>T (NDUFS2) | ENSP00000504065.1:n.-240+1888G>T | |
| ENST00000677925.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000678052.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000678492.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000678507.1:c.-240+1888G>T (NDUFS2) | ENSP00000504199.1:n.-240+1888G>T | |
| ENST00000678605.1:c.-240+1888G>T (NDUFS2) | ENSP00000503969.1:n.-240+1888G>T | |
| ENST00000678613.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000678793.1:c.-240+1888G>T (NDUFS2) | ENSP00000503431.1:n.-240+1888G>T | |
| ENST00000678911.1:c.-240+1888G>T (NDUFS2) | ENSP00000503946.1:n.-240+1888G>T | |
| ENST00000678966.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000679064.1:c.-240+1888G>T (NDUFS2) | ENSP00000502868.1:n.-240+1888G>T | |
| ENST00000679176.1:c.-388G>T (NDUFS2) | ENSP00000504170.1:n.-388G>T | |
| ENST00000679215.1:n.64+1888G>T (NDUFS2) | ||
| ENST00000679282.1:c.-240+1888G>T (NDUFS2) | ENSP00000504533.1:n.-240+1888G>T | |
| ENST00000367993.7:c.-388G>T (NDUFS2) | ENSP00000356972.3:n.-388G>T | |
| ENST00000479948.5:n.53+2219G>T (NDUFS2) | ||
| ENST00000496133.5:n.69+1888G>T (NDUFS2) | ||
| NM_004550.4:c.-388G>T (NDUFS2) | NP_004541.1:n.-388G>T | |
| XM_005245208.1:c.-240+1888G>T (NDUFS2) | XP_005245265.1:n.-240+1888G>T | |
| XR_001737548.2:n.2965C>A (ADAMTS4) | ||
| XR_001737549.2:n.2965C>A (ADAMTS4) | ||
| NM_001377298.1:c.-240+1888G>T (NDUFS2) | NP_001364227.1:n.-240+1888G>T | |
| NM_001377300.1:c.-240+1888G>T (NDUFS2) | NP_001364229.1:n.-240+1888G>T | |
| NM_001377301.1:c.-388G>T (NDUFS2) | NP_001364230.1:n.-388G>T | |
| NM_004550.5:c.-388G>T (NDUFS2) | NP_004541.1:n.-388G>T |