Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9394366T>C , CM000674.2:g.9394366T>C | GRCh38 |
| NC_000012.11:g.9546962T>C , CM000674.1:g.9546962T>C | GRCh37 |
| NC_000012.10:g.9438229T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120479.1:n.2363-165T>C |