Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369522G>A , CM000667.2:g.132369522G>A | GRCh38 |
| NC_000005.9:g.131705214G>A , CM000667.1:g.131705214G>A | GRCh37 |
| NC_000005.8:g.131733113G>A | NCBI36 |
| NG_008982.1:g.4814G>A | |
| NG_008982.2:g.4819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.73+322C>T |