Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165478647A>G , CM000663.2:g.165478647A>G | GRCh38 |
| NC_000001.10:g.165447884A>G , CM000663.1:g.165447884A>G | GRCh37 |
| NC_000001.9:g.163714508A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_026744.2:n.1530-1532T>C |