HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11847567A>G , CM000663.2:g.11847567A>G | GRCh38 |
NC_000001.10:g.11907624A>G , CM000663.1:g.11907624A>G | GRCh37 |
NC_000001.9:g.11830211A>G | NCBI36 |
NG_012926.1:g.5217T>C , LRG_751:g.5217T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1962-10A>G (CLCN6) | ENSP00000496938.1:n.*1962-10A>G | |
ENST00000446542.5:n.915A>G (NPPA-AS1) | ||
ENST00000376476.1:c.-27-128T>C (NPPA) | ENSP00000365659.1:n.-27-128T>C | |
ENST00000376480.7:c.118T>C (NPPA) MANE Select | ENSP00000365663.3:p.Phe40Leu | |
ENST00000610706.1:c.118T>C (NPPA) | ENSP00000483195.1:p.Phe40Leu | |
NM_006172.3:c.118T>C , LRG_751t1:c.118T>C (NPPA) | NP_006163.1:p.Phe40Leu | |
NR_037806.1:n.1613A>G (NPPA-AS1) | ||
NM_006172.4:c.118T>C (NPPA) MANE Select | NP_006163.1:p.Phe40Leu |