Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814273G>A , CM000674.2:g.52814273G>A | GRCh38 |
| NC_000012.11:g.53208057G>A , CM000674.1:g.53208057G>A | GRCh37 |
| NC_000012.10:g.51494324G>A | NCBI36 |
| NG_007380.1:g.5279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-215C>T | ENSP00000448220.1:n.-215C>T |