Linked Data
dbSNP Id:
rs574011269
gnomAD v2:
1-183559722-C-T
gnomAD v3:
1-183590587-C-T
gnomAD v4:
1-183590587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183590587C>T , CM000663.2:g.183590587C>T | GRCh38 |
| NC_000001.10:g.183559722C>T , CM000663.1:g.183559722C>T | GRCh37 |
| NC_000001.9:g.181826345C>T | NCBI36 |
| NG_007267.1:g.4995G>A , LRG_88:g.4995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697330.1:c.-30-228G>A (NCF2) | ENSP00000513258.1:n.-30-228G>A | |
| ENST00000697352.1:n.5G>A (NCF2) | ||
| ENST00000697353.1:n.83+36G>A (NCF2) | ||
| ENST00000367536.5:c.-30-228G>A (NCF2) | ENSP00000356506.1:n.-30-228G>A | |
| ENST00000413720.5:c.-258G>A (NCF2) | ENSP00000399294.1:n.-258G>A | |
| ENST00000418089.5:c.-258G>A (NCF2) | ENSP00000407217.1:n.-258G>A | |
| ENST00000495321.1:n.234-7182C>T (SMG7) | ||
| NM_000433.3:c.-258G>A , LRG_88t1:c.-258G>A (NCF2) | NP_000424.2:n.-258G>A | |
| NM_001127651.2:c.-30-228G>A (NCF2) | NP_001121123.1:n.-30-228G>A | |
| NM_001190789.1:c.-258G>A (NCF2) | NP_001177718.1:n.-258G>A | |
| NM_001190794.1:c.-258G>A (NCF2) | NP_001177723.1:n.-258G>A | |
| XM_011509580.1:c.-31+36G>A (NCF2) | XP_011507882.1:n.-31+36G>A | |
| XM_011509581.1:c.-96G>A (NCF2) | XP_011507883.1:n.-96G>A | |
| NM_001127651.3:c.-30-228G>A (NCF2) | NP_001121123.1:n.-30-228G>A |