Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8746799T>A , CM000665.2:g.8746799T>A | GRCh38 |
| NC_000003.11:g.8788485T>A , CM000665.1:g.8788485T>A | GRCh37 |
| NC_000003.10:g.8763485T>A | NCBI36 |
| NG_008797.2:g.17990T>A , LRG_329:g.17990T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472766.1:n.155+12809T>A |