Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442604C>T , CM000666.2:g.177442604C>T | GRCh38 |
| NC_000004.11:g.178363758C>T , CM000666.1:g.178363758C>T | GRCh37 |
| NC_000004.10:g.178600752C>T | NCBI36 |
| NG_011845.2:g.4900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741929.1:n.82+23C>T |