Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37952931C>A , CM000683.2:g.37952931C>A | GRCh38 |
| NC_000021.8:g.39325234C>A , CM000683.1:g.39325234C>A | GRCh37 |
| NC_000021.7:g.38247104C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000398948.5:c.305G>T (DSCR4) | ENSP00000381921.1:p.Ser102Ile |
| ENST00000645093.1:c.-27-112222G>T (KCNJ6) | ENSP00000493772.1:n.-27-112222G>T |