Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74670881G>C , CM000679.2:g.74670881G>C | GRCh38 |
| NC_000017.10:g.72667020G>C , CM000679.1:g.72667020G>C | GRCh37 |
| NC_000017.9:g.70178615G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340415.7:c.-706G>C | ENSP00000341354.3:n.-706G>C | |
| XR_001753013.2:n.5739C>G |