Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22131668T>G , CM000668.2:g.22131668T>G | GRCh38 |
| NC_000006.11:g.22131897T>G , CM000668.1:g.22131897T>G | GRCh37 |
| NC_000006.10:g.22239876T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015410.1:n.1391+20748T>G | ||
| NR_015410.2:n.1422+20748T>G |