Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165478788T>C , CM000663.2:g.165478788T>C | GRCh38 |
| NC_000001.10:g.165448025T>C , CM000663.1:g.165448025T>C | GRCh37 |
| NC_000001.9:g.163714649T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_026744.2:n.1530-1673A>G |