Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183590659C>T , CM000663.2:g.183590659C>T | GRCh38 |
| NC_000001.10:g.183559794C>T , CM000663.1:g.183559794C>T | GRCh37 |
| NC_000001.9:g.181826417C>T | NCBI36 |
| NG_007267.1:g.4923G>A , LRG_88:g.4923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697330.1:c.-31+181G>A (NCF2) | ENSP00000513258.1:n.-31+181G>A | |
| ENST00000697353.1:n.47G>A (NCF2) | ||
| ENST00000367536.5:c.-31+181G>A (NCF2) | ENSP00000356506.1:n.-31+181G>A | |
| ENST00000495321.1:n.234-7110C>T (SMG7) | ||
| NM_001127651.2:c.-31+181G>A (NCF2) | NP_001121123.1:n.-31+181G>A | |
| XM_011509580.1:c.-67G>A (NCF2) | XP_011507882.1:n.-67G>A | |
| NM_001127651.3:c.-31+181G>A (NCF2) | NP_001121123.1:n.-31+181G>A |