Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32390493G>C , CM000668.2:g.32390493G>C | GRCh38 |
| NC_000006.11:g.32358270G>C , CM000668.1:g.32358270G>C | GRCh37 |
| NC_000006.10:g.32466248G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_136245.1:n.303-14961G>C | |
| XM_011515039.1:c.482-14961G>C | XP_011513341.1:n.482-14961G>C |