| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352331A= , CM000685.2:g.38352331A= | GRCh38 |
| NC_000023.10:g.38211584A= , CM000685.1:g.38211584A= | GRCh37 |
| NC_000023.9:g.38096528A= | NCBI36 |
| NG_008471.1:g.4849A= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000465127.1:c.172-313790A= | ENSP00000417050.1:n.172-313790A= |