Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7715439G= , CM000686.2:g.7715439G= | GRCh38 |
| NC_000024.9:g.7583480G= , CM000686.1:g.7583480G= | GRCh37 |
| NC_000024.8:g.7643480G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.299-2342C= | ||
| ENST00000455527.5:n.884-2342C= |