Linked Data
gnomAD v4:
1-207454267-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454267G>A , CM000663.2:g.207454267G>A | GRCh38 |
| NC_000001.10:g.207627612G>A , CM000663.1:g.207627612G>A | GRCh37 |
| NC_000001.9:g.205694235G>A | NCBI36 |
| NG_013006.1:g.4968G>A , LRG_348:g.4968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+1172G>A | ENSP00000514493.1:n.-385+1172G>A | |
| ENST00000367057.7:c.-152G>A | ENSP00000356024.3:n.-152G>A | |
| ENST00000367058.7:c.-152G>A | ENSP00000356025.3:n.-152G>A | |
| ENST00000367059.3:c.-152G>A | ENSP00000356026.3:n.-152G>A |