Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7736145T>C , CM000686.2:g.7736145T>C | GRCh38 |
| NC_000024.9:g.7604186T>C , CM000686.1:g.7604186T>C | GRCh37 |
| NC_000024.8:g.7664186T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.299-23048A>G | ||
| ENST00000455527.5:n.297-6305A>G |