Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269354C>A , CM000666.2:g.6269354C>A | GRCh38 |
| NC_000004.11:g.6271081C>A , CM000666.1:g.6271081C>A | GRCh37 |
| NC_000004.10:g.6321982C>A | NCBI36 |
| NG_011700.1:g.4505C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017008586.1:c.4+7715C>A | XP_016864075.1:n.4+7715C>A |