Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442651A>C , CM000666.2:g.177442651A>C | GRCh38 |
| NC_000004.11:g.178363805A>C , CM000666.1:g.178363805A>C | GRCh37 |
| NC_000004.10:g.178600799A>C | NCBI36 |
| NG_011845.2:g.4853T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741929.1:n.82+70A>C |