This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216000330G= , CM000663.2:g.216000330G= | GRCh38 |
| NC_000001.10:g.216173672G= , CM000663.1:g.216173672G= | GRCh37 |
| NC_000001.9:g.214240295G= | NCBI36 |
| NG_009497.1:g.428067C= | |
| NG_009497.2:g.428119C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.6485+73C= MANE Select | NP_996816.3:n.6485+73C= |
| ENST00000307340.8:c.6485+73C= MANE Select | ENSP00000305941.3:n.6485+73C= |
| NM_206933.2:c.6485+73C= | NP_996816.2:n.6485+73C= |
| NM_206933.3:c.6485+73C= | NP_996816.2:n.6485+73C= |
| ENST00000307340.7:c.6485+73C= | ENSP00000305941.3:n.6485+73C= |
| ENST00000674083.1:c.6485+73C= | ENSP00000501296.1:n.6485+73C= |