Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44386100C>A , CM000672.2:g.44386100C>A | GRCh38 |
| NC_000010.10:g.44881548C>A , CM000672.1:g.44881548C>A | GRCh37 |
| NC_000010.9:g.44201554C>A | NCBI36 |
| NG_016861.1:g.3998G>T | |
| NG_016861.2:g.3998G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496375.1:n.394G>T |