Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44385975C= , CM000672.2:g.44385975C= | GRCh38 |
| NC_000010.10:g.44881423C= , CM000672.1:g.44881423C= | GRCh37 |
| NC_000010.9:g.44201429C= | NCBI36 |
| NG_016861.1:g.4123G= | |
| NG_016861.2:g.4123G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496375.1:n.518+1G= |