Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55283305G>A , CM000668.2:g.55283305G>A | GRCh38 |
| NC_000006.11:g.55148103G>A , CM000668.1:g.55148103G>A | GRCh37 |
| NC_000006.10:g.55256062G>A | NCBI36 |
| NG_012447.1:g.114033G>A | |
| NG_012447.2:g.181846G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017010798.1:c.1331+855G>A | XP_016866287.1:n.1331+855G>A |