| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100142995C= , CM000664.2:g.100142995C= | GRCh38 |
| NC_000002.11:g.100759457C= , CM000664.1:g.100759457C= | GRCh37 |
| NC_000002.10:g.100125889C= | NCBI36 |
| NG_052835.1:g.4589G= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000672999.1:n.288-400G= |