Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24794988C= , CM000666.2:g.24794988C= | GRCh38 |
| NC_000004.11:g.24796610C= , CM000666.1:g.24796610C= | GRCh37 |
| NC_000004.10:g.24405708C= | NCBI36 |
| NG_012213.1:g.4526C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000598411.1:c.-16-4518C= | ENSP00000472134.1:n.-16-4518C= |