Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814305C= , CM000674.2:g.52814305C= | GRCh38 |
| NC_000012.11:g.53208089C= , CM000674.1:g.53208089C= | GRCh37 |
| NC_000012.10:g.51494356C= | NCBI36 |
| NG_007380.1:g.5247G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-247G= | ENSP00000448220.1:n.-247G= |