| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164265C= , CM000673.2:g.112164265C= | GRCh38 |
| NC_000011.9:g.112034988C= , CM000673.1:g.112034988C= | GRCh37 |
| NC_000011.8:g.111540198C= | NCBI36 |
| NG_028143.1:g.4853G= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000525987.5:n.320-6154C= | |
| ENST00000531744.5:c.315-6154C= | ENSP00000456957.1:n.315-6154C= |
| ENST00000532699.1:c.315-6154C= | ENSP00000456434.1:n.315-6154C= |