HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11847384G>C , CM000663.2:g.11847384G>C | GRCh38 |
NC_000001.10:g.11907441G>C , CM000663.1:g.11907441G>C | GRCh37 |
NC_000001.9:g.11830028G>C | NCBI36 |
NG_012926.1:g.5400C>G , LRG_751:g.5400C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1962-193G>C (CLCN6) | ENSP00000496938.1:n.*1962-193G>C | |
ENST00000446542.5:n.782-50G>C (NPPA-AS1) | ||
ENST00000376476.1:c.29C>G (NPPA) | ENSP00000365659.1:p.Pro10Arg | |
ENST00000376480.7:c.179C>G (NPPA) MANE Select | ENSP00000365663.3:p.Pro60Arg | |
ENST00000610706.1:c.179C>G (NPPA) | ENSP00000483195.1:p.Pro60Arg | |
NM_006172.3:c.179C>G , LRG_751t1:c.179C>G (NPPA) | NP_006163.1:p.Pro60Arg | |
NR_037806.1:n.1480-50G>C (NPPA-AS1) | ||
NM_006172.4:c.179C>G (NPPA) MANE Select | NP_006163.1:p.Pro60Arg |