Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.24258000G>C , CM000663.2:g.24258000G>C | GRCh38 |
| NC_000001.10:g.24584490G>C , CM000663.1:g.24584490G>C | GRCh37 |
| NC_000001.9:g.24457077G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000690803.1:c.-76+21163G>C | ENSP00000510783.1:n.-76+21163G>C |