Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814118C>G , CM000674.2:g.52814118C>G | GRCh38 |
| NC_000012.11:g.53207902C>G , CM000674.1:g.53207902C>G | GRCh37 |
| NC_000012.10:g.51494169C>G | NCBI36 |
| NG_007380.1:g.5434G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-60G>C | ENSP00000448220.1:n.-60G>C |