Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97793727G>T , CM000671.2:g.97793727G>T | GRCh38 |
| NC_000009.11:g.100556009G>T , CM000671.1:g.100556009G>T | GRCh37 |
| NC_000009.10:g.99595830G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930161.1:n.363+16168C>A | ||
| XR_930162.1:n.6412G>T | ||
| NR_147055.1:n.777+10524C>A |