Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22720869T>G , CM000669.2:g.22720869T>G | GRCh38 |
| NC_000007.13:g.22760488T>G , CM000669.1:g.22760488T>G | GRCh37 |
| NC_000007.12:g.22727013T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650428.1:n.46+6699A>C |