Linked Data
gnomAD v4:
1-183590639-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183590639A>G , CM000663.2:g.183590639A>G | GRCh38 |
| NC_000001.10:g.183559774A>G , CM000663.1:g.183559774A>G | GRCh37 |
| NC_000001.9:g.181826397A>G | NCBI36 |
| NG_007267.1:g.4943T>C , LRG_88:g.4943T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697330.1:c.-31+201T>C (NCF2) | ENSP00000513258.1:n.-31+201T>C | |
| ENST00000697353.1:n.67T>C (NCF2) | ||
| ENST00000367536.5:c.-31+201T>C (NCF2) | ENSP00000356506.1:n.-31+201T>C | |
| ENST00000495321.1:n.234-7130A>G (SMG7) | ||
| NM_001127651.2:c.-31+201T>C (NCF2) | NP_001121123.1:n.-31+201T>C | |
| XM_011509580.1:c.-47T>C (NCF2) | XP_011507882.1:n.-47T>C | |
| NM_001127651.3:c.-31+201T>C (NCF2) | NP_001121123.1:n.-31+201T>C |