Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52552429A>G , CM000678.2:g.52552429A>G | GRCh38 |
| NC_000016.9:g.52586341A>G , CM000678.1:g.52586341A>G | GRCh37 |
| NC_000016.8:g.51143842A>G | NCBI36 |
| NG_012623.1:g.374T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_033920.1:n.659T>C |