Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99162881G>A , CM000669.2:g.99162881G>A | GRCh38 |
| NC_000007.13:g.98760504G>A , CM000669.1:g.98760504G>A | GRCh37 |
| NC_000007.12:g.98598440G>A | NCBI36 |
| NG_051213.1:g.61537C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017012211.1:c.1545+15039C>T | XP_016867700.1:n.1545+15039C>T |