Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97794690A>G , CM000671.2:g.97794690A>G | GRCh38 |
| NC_000009.11:g.100556972A>G , CM000671.1:g.100556972A>G | GRCh37 |
| NC_000009.10:g.99596793A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147055.1:n.777+9561T>C | |
| XR_930161.1:n.363+15205T>C |