Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232765C= , CM000673.2:g.5232765C= | GRCh38 |
| NC_000011.9:g.5253995C= , CM000673.1:g.5253995C= | GRCh37 |
| NC_000011.8:g.5210571C= | NCBI36 |
| NG_000007.3:g.64851G= | |
| NG_063112.2:g.15893G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000292901.7:c.349G= | ENSP00000292901.3:p.Gly117= |