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