Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176666695G>A , CM000666.2:g.176666695G>A | GRCh38 |
| NC_000004.11:g.177587846G>A , CM000666.1:g.177587846G>A | GRCh37 |
| NC_000004.10:g.177824840G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_939498.1:n.121-2926G>A | ||
| XR_939499.1:n.121-2926G>A | ||
| XR_939498.2:n.208-2926G>A | ||
| XR_939499.2:n.204-2926G>A |