Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670218T= , CM000666.2:g.68670218T= | GRCh38 |
| NC_000004.11:g.69535936T= , CM000666.1:g.69535936T= | GRCh37 |
| NC_000004.10:g.69218531T= | NCBI36 |
| NG_052676.1:g.5559A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.401A= MANE Select | ENSP00000341045.5:p.Asn134= | |
| ENST00000338206.5:c.401A= | ENSP00000341045.5:p.Asn134= | |
| ENST00000616841.4:c.401A= | ENSP00000482004.1:p.Asn134= | |
| NM_001076.3:c.401A= | NP_001067.2:p.Asn134= | |
| NM_001076.4:c.401A= MANE Select | NP_001067.2:p.Asn134= |