Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44385390T>C , CM000672.2:g.44385390T>C | GRCh38 |
| NC_000010.10:g.44880838T>C , CM000672.1:g.44880838T>C | GRCh37 |
| NC_000010.9:g.44200844T>C | NCBI36 |
| NG_016861.1:g.4708A>G | |
| NG_016861.2:g.4708A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000496375.1:n.518+586A>G |