Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8749760G>A , CM000665.2:g.8749760G>A | GRCh38 |
| NC_000003.11:g.8791446G>A , CM000665.1:g.8791446G>A | GRCh37 |
| NC_000003.10:g.8766446G>A | NCBI36 |
| NG_008797.2:g.20951G>A , LRG_329:g.20951G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000472766.1:n.155+15770G>A |