Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102785692G>C , CM000673.2:g.102785692G>C | GRCh38 |
| NC_000011.9:g.102656423G>C , CM000673.1:g.102656423G>C | GRCh37 |
| NC_000011.8:g.102161633G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038390.1:n.389+1628G>C | |
| ENST00000371455.7:n.325-12332G>C | |
| ENST00000525739.6:n.389+1628G>C | |
| ENST00000544704.1:n.344+1628G>C |