| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102499602T>C , CM000666.2:g.102499602T>C | GRCh38 |
| NC_000004.11:g.103420759T>C , CM000666.1:g.103420759T>C | GRCh37 |
| NC_000004.10:g.103639791T>C | NCBI36 |
| NG_050628.1:g.3274T>C |
| HGVS | Amino-acid Change |
|---|---|
| NR_136202.1:n.48+2837A>G | |
| XM_011532467.1:c.643+1647A>G | XP_011530769.1:n.643+1647A>G |