| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203866178T= , CM000664.2:g.203866178T= | GRCh38 |
| NC_000002.11:g.204730901T= , CM000664.1:g.204730901T= | GRCh37 |
| NC_000002.10:g.204439146T= | NCBI36 |
| NG_011502.1:g.3393T= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000696479.1:c.48-1740T= | ENSP00000512655.1:n.48-1740T= |