Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33092219T>G , CM000668.2:g.33092219T>G | GRCh38 |
| NC_000006.11:g.33059996T>G , CM000668.1:g.33059996T>G | GRCh37 |
| NC_000006.10:g.33167974T>G | NCBI36 |
| NG_033242.1:g.21294T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000433582.1:n.482A>C |