HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11845816G= , CM000663.2:g.11845816G= | GRCh38 |
NC_000001.10:g.11905873G= , CM000663.1:g.11905873G= | GRCh37 |
NC_000001.9:g.11828460G= | NCBI36 |
NG_012926.1:g.6968C= , LRG_751:g.6968C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1961+50G= (CLCN6) | ENSP00000496938.1:n.*1961+50G= | |
ENST00000446542.5:n.781+50G= (NPPA-AS1) | ||
ENST00000376480.7:c.*193C= (NPPA) MANE Select | ENSP00000365663.3:n.*193C= | |
ENST00000610706.1:c.*187C= (NPPA) | ENSP00000483195.1:n.*187C= | |
NM_006172.3:c.*193C= , LRG_751t1:c.*193C= (NPPA) | NP_006163.1:n.*193C= | |
NR_037806.1:n.1479+50G= (NPPA-AS1) | ||
NM_006172.4:c.*193C= (NPPA) MANE Select | NP_006163.1:n.*193C= |