Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847591C= , CM000663.2:g.11847591C= | GRCh38 |
| NC_000001.10:g.11907648C= , CM000663.1:g.11907648C= | GRCh37 |
| NC_000001.9:g.11830235C= | NCBI36 |
| NG_012926.1:g.5193G= , LRG_751:g.5193G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006172.4:c.94G= (NPPA) MANE Select | NP_006163.1:p.Val32= |
| ENST00000376480.7:c.94G= (NPPA) MANE Select | ENSP00000365663.3:p.Val32= |
| NM_006172.3:c.94G= , LRG_751t1:c.94G= (NPPA) | NP_006163.1:p.Val32= |
| NR_037806.1:n.1637C= (NPPA-AS1) | |
| ENST00000376476.1:c.-27-152G= (NPPA) | ENSP00000365659.1:n.-27-152G= |
| ENST00000400892.3:c.*1976C= (CLCN6) | ENSP00000496938.1:n.*1976C= |
| ENST00000446542.5:n.939C= (NPPA-AS1) | |
| ENST00000610706.1:c.94G= (NPPA) | ENSP00000483195.1:p.Val32= |