Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22131859C>T , CM000668.2:g.22131859C>T | GRCh38 |
| NC_000006.11:g.22132088C>T , CM000668.1:g.22132088C>T | GRCh37 |
| NC_000006.10:g.22240067C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015410.1:n.1391+20939C>T | ||
| NR_015410.2:n.1422+20939C>T |