Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19606073C= , CM000686.2:g.19606073C= | GRCh38 |
| NC_000024.9:g.21767959C= , CM000686.1:g.21767959C= | GRCh37 |
| NC_000024.8:g.20227347C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_045128.1:n.3551C= | |
| ENST00000253320.8:n.7098C= |