Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128547188A>G , CM000670.2:g.128547188A>G | GRCh38 |
| NC_000008.10:g.129559434A>G , CM000670.1:g.129559434A>G | GRCh37 |
| NC_000008.9:g.129628616A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121672.1:n.508+13882T>C |