Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133539575A>C , CM000672.2:g.133539575A>C | GRCh38 |
| NC_000010.10:g.135353079A>C , CM000672.1:g.135353079A>C | GRCh37 |
| NC_000010.9:g.135203069A>C | NCBI36 |
| NG_008383.1:g.17213A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000368520.1:n.1358+1683A>C |