Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.29417200A>G , CM000681.2:g.29417200A>G | GRCh38 |
| NC_000019.9:g.29908107A>G , CM000681.1:g.29908107A>G | GRCh37 |
| NC_000019.8:g.34599947A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_040029.1:n.410-4234T>C | |
| NR_040029.2:n.408-4234T>C |