Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12444629G= , CM000686.2:g.12444629G= | GRCh38 |
| NC_000024.9:g.14556428G= , CM000686.1:g.14556428G= | GRCh37 |
| NC_000024.8:g.13066436G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381172.3:n.294-1329C= |