Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20004625G>A , CM000686.2:g.20004625G>A | GRCh38 |
| NC_000024.9:g.22166511G>A , CM000686.1:g.22166511G>A | GRCh37 |
| NC_000024.8:g.20625899G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450781.1:n.208+1115C>T |