Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814214C>G , CM000674.2:g.52814214C>G | GRCh38 |
| NC_000012.11:g.53207998C>G , CM000674.1:g.53207998C>G | GRCh37 |
| NC_000012.10:g.51494265C>G | NCBI36 |
| NG_007380.1:g.5338G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-156G>C | ENSP00000448220.1:n.-156G>C |