| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112165426A= , CM000673.2:g.112165426A= | GRCh38 |
| NC_000011.9:g.112036149A= , CM000673.1:g.112036149A= | GRCh37 |
| NC_000011.8:g.111541359A= | NCBI36 |
| NG_028143.1:g.3692T= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000525987.5:n.320-4993A= | |
| ENST00000531744.5:c.315-4993A= | ENSP00000456957.1:n.315-4993A= |
| ENST00000532699.1:c.315-4993A= | ENSP00000456434.1:n.315-4993A= |
| XR_001748384.1:n.247T= |