Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22131676A>C , CM000668.2:g.22131676A>C | GRCh38 |
| NC_000006.11:g.22131905A>C , CM000668.1:g.22131905A>C | GRCh37 |
| NC_000006.10:g.22239884A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015410.1:n.1391+20756A>C | ||
| NR_015410.2:n.1422+20756A>C |