Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110460486G>T , CM000666.2:g.110460486G>T | GRCh38 |
| NC_000004.11:g.111381642G>T , CM000666.1:g.111381642G>T | GRCh37 |
| NC_000004.10:g.111601091G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510961.1:n.73-28055G>T |