HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11847669T>C , CM000663.2:g.11847669T>C | GRCh38 |
NC_000001.10:g.11907726T>C , CM000663.1:g.11907726T>C | GRCh37 |
NC_000001.9:g.11830313T>C | NCBI36 |
NG_012926.1:g.5115A>G , LRG_751:g.5115A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*2054T>C (CLCN6) | ENSP00000496938.1:n.*2054T>C | |
ENST00000446542.5:n.1017T>C (NPPA-AS1) | ||
ENST00000376476.1:c.-27-230A>G (NPPA) | ENSP00000365659.1:n.-27-230A>G | |
ENST00000376480.7:c.16A>G (NPPA) MANE Select | ENSP00000365663.3:p.Thr6Ala | |
ENST00000610706.1:c.16A>G (NPPA) | ENSP00000483195.1:p.Thr6Ala | |
NM_006172.3:c.16A>G , LRG_751t1:c.16A>G (NPPA) | NP_006163.1:p.Thr6Ala | |
NM_006172.4:c.16A>G (NPPA) MANE Select | NP_006163.1:p.Thr6Ala |