Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69650739C= , CM000673.2:g.69650739C= | GRCh38 |
| NC_000011.9:g.69465507C= , CM000673.1:g.69465507C= | GRCh37 |
| NC_000011.8:g.69174688C= | NCBI36 |
| NG_007375.1:g.14635C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053056.3:c.724-379C= MANE Select | NP_444284.1:n.724-379C= |
| ENST00000227507.3:c.724-379C= MANE Select | ENSP00000227507.2:n.724-379C= |
| NM_053056.2:c.724-379C= | NP_444284.1:n.724-379C= |
| ENST00000227507.2:c.724-379C= | ENSP00000227507.2:n.724-379C= |
| ENST00000542367.1:n.187-379C= | |
| XM_006718653.2:c.748-379C= | XP_006718716.1:n.748-379C= |