Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205280322A>G , CM000663.2:g.205280322A>G | GRCh38 |
| NC_000001.10:g.205249450A>G , CM000663.1:g.205249450A>G | GRCh37 |
| NC_000001.9:g.203516073A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648708.1:n.432-27A>G |