Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22125735T>C , CM000668.2:g.22125735T>C | GRCh38 |
| NC_000006.11:g.22125964T>C , CM000668.1:g.22125964T>C | GRCh37 |
| NC_000006.10:g.22233943T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_015410.1:n.1391+14815T>C | |
| NR_015410.2:n.1422+14815T>C |