Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97793827A>C , CM000671.2:g.97793827A>C | GRCh38 |
| NC_000009.11:g.100556109A>C , CM000671.1:g.100556109A>C | GRCh37 |
| NC_000009.10:g.99595930A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147055.1:n.777+10424T>G | |
| XR_930161.1:n.363+16068T>G | |
| XR_930162.1:n.6512A>C |