Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814278C>A , CM000674.2:g.52814278C>A | GRCh38 |
| NC_000012.11:g.53208062C>A , CM000674.1:g.53208062C>A | GRCh37 |
| NC_000012.10:g.51494329C>A | NCBI36 |
| NG_007380.1:g.5274G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-220G>T | ENSP00000448220.1:n.-220G>T |