Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11845820C= , CM000663.2:g.11845820C= | GRCh38 |
| NC_000001.10:g.11905877C= , CM000663.1:g.11905877C= | GRCh37 |
| NC_000001.9:g.11828464C= | NCBI36 |
| NG_012926.1:g.6964G= , LRG_751:g.6964G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1961+54C= (CLCN6) | ENSP00000496938.1:n.*1961+54C= | |
| ENST00000446542.5:n.781+54C= (NPPA-AS1) | ||
| ENST00000376480.7:c.*189G= (NPPA) MANE Select | ENSP00000365663.3:n.*189G= | |
| ENST00000610706.1:c.*183G= (NPPA) | ENSP00000483195.1:n.*183G= | |
| NM_006172.3:c.*189G= , LRG_751t1:c.*189G= (NPPA) | NP_006163.1:n.*189G= | |
| NR_037806.1:n.1479+54C= (NPPA-AS1) | ||
| NM_006172.4:c.*189G= (NPPA) MANE Select | NP_006163.1:n.*189G= |