Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35068589A>G , CM000681.2:g.35068589A>G | GRCh38 |
| NC_000019.9:g.35559493A>G , CM000681.1:g.35559493A>G | GRCh37 |
| NC_000019.8:g.40251333A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_024562.1:n.405-8811T>C |