Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442553C= , CM000666.2:g.177442553C= | GRCh38 |
| NC_000004.11:g.178363707C= , CM000666.1:g.178363707C= | GRCh37 |
| NC_000004.10:g.178600701C= | NCBI36 |
| NG_011845.2:g.4951G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741929.1:n.54C= |