Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22131623C>A , CM000668.2:g.22131623C>A | GRCh38 |
| NC_000006.11:g.22131852C>A , CM000668.1:g.22131852C>A | GRCh37 |
| NC_000006.10:g.22239831C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015410.1:n.1391+20703C>A | ||
| NR_015410.2:n.1422+20703C>A |