HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11847608T>C , CM000663.2:g.11847608T>C | GRCh38 |
NC_000001.10:g.11907665T>C , CM000663.1:g.11907665T>C | GRCh37 |
NC_000001.9:g.11830252T>C | NCBI36 |
NG_012926.1:g.5176A>G , LRG_751:g.5176A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1993T>C (CLCN6) | ENSP00000496938.1:n.*1993T>C | |
ENST00000446542.5:n.956T>C (NPPA-AS1) | ||
ENST00000376476.1:c.-27-169A>G (NPPA) | ENSP00000365659.1:n.-27-169A>G | |
ENST00000376480.7:c.77A>G (NPPA) MANE Select | ENSP00000365663.3:p.Asn26Ser | |
ENST00000610706.1:c.77A>G (NPPA) | ENSP00000483195.1:p.Asn26Ser | |
NM_006172.3:c.77A>G , LRG_751t1:c.77A>G (NPPA) | NP_006163.1:p.Asn26Ser | |
NR_037806.1:n.1654T>C (NPPA-AS1) | ||
NM_006172.4:c.77A>G (NPPA) MANE Select | NP_006163.1:p.Asn26Ser |