Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33092678C>T , CM000668.2:g.33092678C>T | GRCh38 |
| NC_000006.11:g.33060455C>T , CM000668.1:g.33060455C>T | GRCh37 |
| NC_000006.10:g.33168433C>T | NCBI36 |
| NG_033242.1:g.21753C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433582.1:n.300+215G>A |