Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97786731A>T , CM000671.2:g.97786731A>T | GRCh38 |
| NC_000009.11:g.100549013A>T , CM000671.1:g.100549013A>T | GRCh37 |
| NC_000009.10:g.99588834A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147055.1:n.777+17520T>A | |
| XR_930161.1:n.363+23164T>A | |
| XR_930162.1:n.66A>T |