Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27654127G>C , CM000673.2:g.27654127G>C | GRCh38 |
| NC_000011.9:g.27675674G>C , CM000673.1:g.27675674G>C | GRCh37 |
| NC_000011.8:g.27632250G>C | NCBI36 |
| NG_011794.1:g.72930C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_002832.2:n.375-4114G>C | ||
| NR_033312.1:n.306-4114G>C | ||
| NR_033313.1:n.306-4114G>C | ||
| NR_033314.1:n.375-4114G>C | ||
| NR_033315.1:n.306-4114G>C |