Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7777298A>G , CM000686.2:g.7777298A>G | GRCh38 |
| NC_000024.9:g.7645339A>G , CM000686.1:g.7645339A>G | GRCh37 |
| NC_000024.8:g.7705339A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.115-594T>C | ||
| ENST00000652723.1:n.1027-594T>C | ||
| ENST00000442584.2:n.219-270T>C |