Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814274A>C , CM000674.2:g.52814274A>C | GRCh38 |
| NC_000012.11:g.53208058A>C , CM000674.1:g.53208058A>C | GRCh37 |
| NC_000012.10:g.51494325A>C | NCBI36 |
| NG_007380.1:g.5278T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-216T>G | ENSP00000448220.1:n.-216T>G |