Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22078386G>C , CM000668.2:g.22078386G>C | GRCh38 |
| NC_000006.11:g.22078615G>C , CM000668.1:g.22078615G>C | GRCh37 |
| NC_000006.10:g.22186594G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_015410.1:n.1217+21696G>C | |
| NR_015410.2:n.1248+21696G>C |