Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814216C>T , CM000674.2:g.52814216C>T | GRCh38 |
| NC_000012.11:g.53208000C>T , CM000674.1:g.53208000C>T | GRCh37 |
| NC_000012.10:g.51494267C>T | NCBI36 |
| NG_007380.1:g.5336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-158G>A | ENSP00000448220.1:n.-158G>A |