Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207453946T>C , CM000663.2:g.207453946T>C | GRCh38 |
| NC_000001.10:g.207627291T>C , CM000663.1:g.207627291T>C | GRCh37 |
| NC_000001.9:g.205693914T>C | NCBI36 |
| NG_013006.1:g.4647T>C , LRG_348:g.4647T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+851T>C | ENSP00000514493.1:n.-385+851T>C |