Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.143587570A= , CM000666.2:g.143587570A= | GRCh38 |
| NC_000004.11:g.144508723A= , CM000666.1:g.144508723A= | GRCh37 |
| NC_000004.10:g.144728173A= | NCBI36 |
| NG_052820.1:g.118106T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329798.5:c.6029-1577T= (FREM3) MANE Select | ENSP00000332886.5:n.6029-1577T= | |
| ENST00000511042.5:n.191+14989A= (GUSBP5) | ||
| NM_001168235.1:c.6029-1577T= (FREM3) | NP_001161707.1:n.6029-1577T= | |
| NM_001168235.2:c.6029-1577T= (FREM3) MANE Select | NP_001161707.1:n.6029-1577T= |