Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69650025G= , CM000673.2:g.69650025G= | GRCh38 |
| NC_000011.9:g.69464793G= , CM000673.1:g.69464793G= | GRCh37 |
| NC_000011.8:g.69173974G= | NCBI36 |
| NG_007375.1:g.13921G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053056.3:c.724-1093G= MANE Select | NP_444284.1:n.724-1093G= |
| ENST00000227507.3:c.724-1093G= MANE Select | ENSP00000227507.2:n.724-1093G= |
| NM_053056.2:c.724-1093G= | NP_444284.1:n.724-1093G= |
| ENST00000227507.2:c.724-1093G= | ENSP00000227507.2:n.724-1093G= |
| ENST00000542367.1:n.187-1093G= | |
| XM_006718653.2:c.748-1093G= | XP_006718716.1:n.748-1093G= |