Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37952931C>T , CM000683.2:g.37952931C>T | GRCh38 |
| NC_000021.8:g.39325234C>T , CM000683.1:g.39325234C>T | GRCh37 |
| NC_000021.7:g.38247104C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000398948.5:c.305G>A (DSCR4) | ENSP00000381921.1:p.Ser102Asn |
| ENST00000645093.1:c.-27-112222G>A (KCNJ6) | ENSP00000493772.1:n.-27-112222G>A |