Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33092651C>G , CM000668.2:g.33092651C>G | GRCh38 |
| NC_000006.11:g.33060428C>G , CM000668.1:g.33060428C>G | GRCh37 |
| NC_000006.10:g.33168406C>G | NCBI36 |
| NG_033242.1:g.21726C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433582.1:n.300+242G>C |