Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11846159G>A , CM000663.2:g.11846159G>A | GRCh38 |
| NC_000001.10:g.11906216G>A , CM000663.1:g.11906216G>A | GRCh37 |
| NC_000001.9:g.11828803G>A | NCBI36 |
| NG_012926.1:g.6625C>T , LRG_751:g.6625C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_006172.3:c.451-145C>T , LRG_751t1:c.451-145C>T (NPPA) | NP_006163.1:p.= | |
| NR_037806.1:n.1479+393G>A (NPPA-AS1) | ||
| NM_006172.4:c.451-145C>T (NPPA) VV | NP_006163.1:p.= | |
| ENST00000376476.1:c.301-145C>T | ENSP00000365659.1:p.= | |
| ENST00000376480.7:c.451-145C>T | ENSP00000365663.3:p.= | |
| ENST00000610706.1:c.451-145C>T | ENSP00000483195.1:p.= |