Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57230669G>A , CM000681.2:g.57230669G>A | GRCh38 |
| NC_000019.9:g.57742037G>A , CM000681.1:g.57742037G>A | GRCh37 |
| NC_000019.8:g.62433849G>A | NCBI36 |
| NG_012134.1:g.4661G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430209.2:n.310G>A | ||
| XR_430209.3:n.353G>A |