| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164784A= , CM000673.2:g.112164784A= | GRCh38 |
| NC_000011.9:g.112035507A= , CM000673.1:g.112035507A= | GRCh37 |
| NC_000011.8:g.111540717A= | NCBI36 |
| NG_028143.1:g.4334T= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000525987.5:n.320-5635A= | |
| ENST00000531744.5:c.315-5635A= | ENSP00000456957.1:n.315-5635A= |
| ENST00000532699.1:c.315-5635A= | ENSP00000456434.1:n.315-5635A= |