Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454219T>A , CM000663.2:g.207454219T>A | GRCh38 |
| NC_000001.10:g.207627564T>A , CM000663.1:g.207627564T>A | GRCh37 |
| NC_000001.9:g.205694187T>A | NCBI36 |
| NG_013006.1:g.4920T>A , LRG_348:g.4920T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+1124T>A | ENSP00000514493.1:n.-385+1124T>A |