Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22092547G>A , CM000673.2:g.22092547G>A | GRCh38 |
| NC_000011.9:g.22114093G>A , CM000673.1:g.22114093G>A | GRCh37 |
| NC_000011.8:g.22070669G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648804.1:n.544+12845G>A | |
| ENST00000682428.1:n.964+12845G>A | |
| XR_001748151.1:n.594+12845G>A | |
| XR_001748152.1:n.545+12845G>A | |
| XR_001748153.1:n.662+12845G>A | |
| XR_428887.2:n.482+12845G>A | |
| XR_931110.1:n.482+12845G>A | |
| XR_931110.2:n.474+12845G>A | |
| XR_931111.1:n.437+12845G>A | |
| XR_931111.2:n.437+12845G>A | |
| XR_931113.1:n.407+12845G>A | |
| XR_931114.1:n.388+12845G>A | |
| XR_931115.1:n.422+12845G>A | |
| XR_931115.2:n.498+12845G>A | |
| XR_931116.1:n.451+12845G>A |