Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55283266G>A , CM000668.2:g.55283266G>A | GRCh38 |
| NC_000006.11:g.55148064G>A , CM000668.1:g.55148064G>A | GRCh37 |
| NC_000006.10:g.55256023G>A | NCBI36 |
| NG_012447.1:g.113994G>A | |
| NG_012447.2:g.181807G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017010798.1:c.1331+816G>A | XP_016866287.1:n.1331+816G>A |