Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22131700C>G , CM000668.2:g.22131700C>G | GRCh38 |
| NC_000006.11:g.22131929C>G , CM000668.1:g.22131929C>G | GRCh37 |
| NC_000006.10:g.22239908C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_015410.1:n.1391+20780C>G | |
| NR_015410.2:n.1422+20780C>G |