Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64941350C>A , CM000665.2:g.64941350C>A | GRCh38 |
| NC_000003.11:g.64927025C>A , CM000665.1:g.64927025C>A | GRCh37 |
| NC_000003.10:g.64902065C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038264.1:n.898-67595C>A | |
| XR_001740436.2:n.1583G>T | |
| XR_001740437.1:n.268+1154G>T | |
| XR_940917.1:n.2204G>T | |
| XR_940918.1:n.2204G>T | |
| XR_940919.1:n.2204G>T | |
| XR_940920.1:n.1148+1154G>T | |
| XR_940921.1:n.2064G>T | |
| XR_940922.1:n.1148+1154G>T | |
| XR_940923.1:n.1148+1154G>T |