Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442547G>A , CM000666.2:g.177442547G>A | GRCh38 |
| NC_000004.11:g.178363701G>A , CM000666.1:g.178363701G>A | GRCh37 |
| NC_000004.10:g.178600695G>A | NCBI36 |
| NG_011845.2:g.4957C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741929.1:n.48G>A |