Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12129026G= , CM000686.2:g.12129026G= | GRCh38 |
| NC_000024.9:g.14249732G= , CM000686.1:g.14249732G= | GRCh37 |
| NC_000024.8:g.12759732G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651802.1:n.713-13713C= |