Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12484660C= , CM000686.2:g.12484660C= | GRCh38 |
| NC_000024.9:g.14596460C= , CM000686.1:g.14596460C= | GRCh37 |
| NC_000024.8:g.13106468C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381172.3:n.121+71G= |