Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12208143C= , CM000686.2:g.12208143C= | GRCh38 |
| NC_000024.9:g.14328849C= , CM000686.1:g.14328849C= | GRCh37 |
| NC_000024.8:g.12838849C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000651802.1:n.587+2022G= | |
| ENST00000651835.1:n.630-1560G= |