Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132367886G>A , CM000667.2:g.132367886G>A | GRCh38 |
| NC_000005.9:g.131703578G>A , CM000667.1:g.131703578G>A | GRCh37 |
| NC_000005.8:g.131731477G>A | NCBI36 |
| NG_008982.1:g.3178G>A | |
| NG_008982.2:g.3183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.74-1105C>T |