Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160071368A>T , CM000663.2:g.160071368A>T | GRCh38 |
| NC_000001.10:g.160041158A>T , CM000663.1:g.160041158A>T | GRCh37 |
| NC_000001.9:g.158307782A>T | NCBI36 |
| NG_016411.1:g.3804T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017001247.1:c.-4045+6337A>T | XP_016856736.1:n.-4045+6337A>T |
| XR_922197.1:n.498+6337A>T |