Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.31226203T>C , CM000672.2:g.31226203T>C | GRCh38 |
| NC_000010.10:g.31515132T>C , CM000672.1:g.31515132T>C | GRCh37 |
| NC_000010.9:g.31555138T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_134478.1:n.318-33779T>C | |
| XR_242751.2:n.491-33779T>C |