Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110460482C>A , CM000666.2:g.110460482C>A | GRCh38 |
| NC_000004.11:g.111381638C>A , CM000666.1:g.111381638C>A | GRCh37 |
| NC_000004.10:g.111601087C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510961.1:n.73-28059C>A |