Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253195T= , CM000673.2:g.5253195T= | GRCh38 |
| NC_000011.9:g.5274425T= , CM000673.1:g.5274425T= | GRCh37 |
| NC_000011.8:g.5231001T= | NCBI36 |
| NG_000007.3:g.44421A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.*82A= MANE Select | ENSP00000338082.4:n.*82A= | |
| ENST00000380252.6:c.*82A= | ENSP00000369602.2:n.*82A= | |
| ENST00000642908.1:c.315+1097A= | ENSP00000495346.1:n.315+1097A= | |
| ENST00000647543.1:c.378+148A= | ENSP00000496470.1:n.378+148A= | |
| ENST00000380252.5:c.*82A= | ENSP00000369602.1:n.*82A= | |
| ENST00000380259.6:c.*82A= | ENSP00000369609.2:n.*82A= | |
| ENST00000620888.4:c.315+1097A= | ENSP00000479637.1:n.315+1097A= | |
| NM_000184.2:c.*82A= | NP_000175.1:n.*82A= | |
| NM_000184.3:c.*82A= MANE Select | NP_000175.1:n.*82A= |