Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15558166A>C , CM000686.2:g.15558166A>C | GRCh38 |
| NC_000024.9:g.17670046A>C , CM000686.1:g.17670046A>C | GRCh37 |
| NC_000024.8:g.16179440A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412493.1:n.893+6151A>C |