Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11845960G>T , CM000663.2:g.11845960G>T | GRCh38 |
| NC_000001.10:g.11906017G>T , CM000663.1:g.11906017G>T | GRCh37 |
| NC_000001.9:g.11828604G>T | NCBI36 |
| NG_012926.1:g.6824C>A , LRG_751:g.6824C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006172.4:c.*49C>A (NPPA) MANE Select | NP_006163.1:n.*49C>A |
| ENST00000376480.7:c.*49C>A (NPPA) MANE Select | ENSP00000365663.3:n.*49C>A |
| NM_006172.3:c.*49C>A , LRG_751t1:c.*49C>A (NPPA) | NP_006163.1:n.*49C>A |
| NR_037806.1:n.1479+194G>T (NPPA-AS1) | |
| ENST00000376476.1:c.*49C>A (NPPA) | ENSP00000365659.1:n.*49C>A |
| ENST00000400892.3:c.*1961+194G>T (CLCN6) | ENSP00000496938.1:n.*1961+194G>T |
| ENST00000446542.5:n.781+194G>T (NPPA-AS1) | |
| ENST00000610706.1:c.*43C>A (NPPA) | ENSP00000483195.1:n.*43C>A |