HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11847673G>T , CM000663.2:g.11847673G>T | GRCh38 |
NC_000001.10:g.11907730G>T , CM000663.1:g.11907730G>T | GRCh37 |
NC_000001.9:g.11830317G>T | NCBI36 |
NG_012926.1:g.5111C>A , LRG_751:g.5111C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*2058G>T (CLCN6) | ENSP00000496938.1:n.*2058G>T | |
ENST00000446542.5:n.1021G>T (NPPA-AS1) | ||
ENST00000376476.1:c.-27-234C>A (NPPA) | ENSP00000365659.1:n.-27-234C>A | |
ENST00000376480.7:c.12C>A (NPPA) MANE Select | ENSP00000365663.3:p.Phe4Leu | |
ENST00000610706.1:c.12C>A (NPPA) | ENSP00000483195.1:p.Phe4Leu | |
NM_006172.3:c.12C>A , LRG_751t1:c.12C>A (NPPA) | NP_006163.1:p.Phe4Leu | |
NM_006172.4:c.12C>A (NPPA) MANE Select | NP_006163.1:p.Phe4Leu |