Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7718878C= , CM000686.2:g.7718878C= | GRCh38 |
| NC_000024.9:g.7586919C= , CM000686.1:g.7586919C= | GRCh37 |
| NC_000024.8:g.7646919C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.299-5781G= | ||
| ENST00000455527.5:n.883+2978G= |