Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814210T>C , CM000674.2:g.52814210T>C | GRCh38 |
| NC_000012.11:g.53207994T>C , CM000674.1:g.53207994T>C | GRCh37 |
| NC_000012.10:g.51494261T>C | NCBI36 |
| NG_007380.1:g.5342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-152A>G | ENSP00000448220.1:n.-152A>G |