Linked Data
gnomAD v4:
1-207454309-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454309C>A , CM000663.2:g.207454309C>A | GRCh38 |
| NC_000001.10:g.207627654C>A , CM000663.1:g.207627654C>A | GRCh37 |
| NC_000001.9:g.205694277C>A | NCBI36 |
| NG_013006.1:g.5010C>A , LRG_348:g.5010C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+1214C>A | ENSP00000514493.1:n.-385+1214C>A | |
| ENST00000367057.7:c.-110C>A | ENSP00000356024.3:n.-110C>A | |
| ENST00000367058.7:c.-110C>A | ENSP00000356025.3:n.-110C>A | |
| ENST00000367059.3:c.-110C>A | ENSP00000356026.3:n.-110C>A | |
| NM_001006658.2:c.-110C>A , LRG_348t1:c.-110C>A | NP_001006659.1:n.-110C>A | |
| NM_001877.4:c.-110C>A | NP_001868.2:n.-110C>A |