Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110460491A>T , CM000666.2:g.110460491A>T | GRCh38 |
| NC_000004.11:g.111381647A>T , CM000666.1:g.111381647A>T | GRCh37 |
| NC_000004.10:g.111601096A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510961.1:n.73-28050A>T |