Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3804318A>C , CM000674.2:g.3804318A>C | GRCh38 |
| NC_000012.11:g.3913484A>C , CM000674.1:g.3913484A>C | GRCh37 |
| NC_000012.10:g.3783745A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416739.5:c.*196+2570T>G | ENSP00000392392.1:n.*196+2570T>G |