Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49873722G>A , CM000665.2:g.49873722G>A | GRCh38 |
| NC_000003.11:g.49911155G>A , CM000665.1:g.49911155G>A | GRCh37 |
| NC_000003.10:g.49886159G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000423971.1:n.4259C>T | |
| ENST00000423971.2:n.3584C>T |