Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79111464G>T , CM000667.2:g.79111464G>T | GRCh38 |
| NC_000005.9:g.78407287G>T , CM000667.1:g.78407287G>T | GRCh37 |
| NC_000005.8:g.78443043G>T | NCBI36 |
| NG_029156.1:g.4684G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520388.5:n.492-7186C>A |