Linked Data
gnomAD v4:
1-207454303-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454303T>G , CM000663.2:g.207454303T>G | GRCh38 |
| NC_000001.10:g.207627648T>G , CM000663.1:g.207627648T>G | GRCh37 |
| NC_000001.9:g.205694271T>G | NCBI36 |
| NG_013006.1:g.5004T>G , LRG_348:g.5004T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+1208T>G | ENSP00000514493.1:n.-385+1208T>G | |
| ENST00000367057.7:c.-116T>G | ENSP00000356024.3:n.-116T>G | |
| ENST00000367058.7:c.-116T>G | ENSP00000356025.3:n.-116T>G | |
| ENST00000367059.3:c.-116T>G | ENSP00000356026.3:n.-116T>G | |
| NM_001006658.2:c.-116T>G , LRG_348t1:c.-116T>G | NP_001006659.1:n.-116T>G | |
| NM_001877.4:c.-116T>G | NP_001868.2:n.-116T>G |