Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47910818G= , CM000674.2:g.47910818G= | GRCh38 |
| NC_000012.11:g.48304601G= , CM000674.1:g.48304601G= | GRCh37 |
| NC_000012.10:g.46590868G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395324.6:c.-83-28044C= | ENSP00000378734.2:n.-83-28044C= |