Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44385969G= , CM000672.2:g.44385969G= | GRCh38 |
| NC_000010.10:g.44881417G= , CM000672.1:g.44881417G= | GRCh37 |
| NC_000010.9:g.44201423G= | NCBI36 |
| NG_016861.1:g.4129C= | |
| NG_016861.2:g.4129C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496375.1:n.518+7C= |