Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12580302G>C , CM000686.2:g.12580302G>C | GRCh38 |
| NC_000024.9:g.14692236G>C , CM000686.1:g.14692236G>C | GRCh37 |
| NC_000024.8:g.13202256G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457658.6:n.653+34052G>C |