Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.9993968T>C , CM000686.2:g.9993968T>C | GRCh38 |
| NC_000024.9:g.9831577T>C , CM000686.1:g.9831577T>C | GRCh37 |
| NC_000024.8:g.10441577T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651645.1:n.953+1629A>G |