Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20004610G= , CM000686.2:g.20004610G= | GRCh38 |
| NC_000024.9:g.22166496G= , CM000686.1:g.22166496G= | GRCh37 |
| NC_000024.8:g.20625884G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450781.1:n.208+1130C= |