Linked Data
gnomAD v4:
1-183590695-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183590695A>C , CM000663.2:g.183590695A>C | GRCh38 |
| NC_000001.10:g.183559830A>C , CM000663.1:g.183559830A>C | GRCh37 |
| NC_000001.9:g.181826453A>C | NCBI36 |
| NG_007267.1:g.4887T>G , LRG_88:g.4887T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697330.1:c.-31+145T>G (NCF2) | ENSP00000513258.1:n.-31+145T>G | |
| ENST00000697353.1:n.11T>G (NCF2) | ||
| ENST00000367536.5:c.-31+145T>G (NCF2) | ENSP00000356506.1:n.-31+145T>G | |
| ENST00000495321.1:n.234-7074A>C (SMG7) | ||
| NM_001127651.2:c.-31+145T>G (NCF2) | NP_001121123.1:n.-31+145T>G | |
| XM_011509580.1:c.-103T>G (NCF2) | XP_011507882.1:n.-103T>G | |
| NM_001127651.3:c.-31+145T>G (NCF2) | NP_001121123.1:n.-31+145T>G |