Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27654326T>C , CM000673.2:g.27654326T>C | GRCh38 |
| NC_000011.9:g.27675873T>C , CM000673.1:g.27675873T>C | GRCh37 |
| NC_000011.8:g.27632449T>C | NCBI36 |
| NG_011794.1:g.72731A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_002832.2:n.375-3915T>C | ||
| NR_033312.1:n.306-3915T>C | ||
| NR_033313.1:n.306-3915T>C | ||
| NR_033314.1:n.375-3915T>C | ||
| NR_033315.1:n.306-3915T>C |