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