Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.41831114T>C , CM000673.2:g.41831114T>C | GRCh38 |
| NC_000011.9:g.41852664T>C , CM000673.1:g.41852664T>C | GRCh37 |
| NC_000011.8:g.41809240T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120584.1:n.370-4057T>C |