Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3804261C>T , CM000674.2:g.3804261C>T | GRCh38 |
| NC_000012.11:g.3913427C>T , CM000674.1:g.3913427C>T | GRCh37 |
| NC_000012.10:g.3783688C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000416739.5:c.*196+2627G>A | ENSP00000392392.1:n.*196+2627G>A |