HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11845987T>G , CM000663.2:g.11845987T>G | GRCh38 |
NC_000001.10:g.11906044T>G , CM000663.1:g.11906044T>G | GRCh37 |
NC_000001.9:g.11828631T>G | NCBI36 |
NG_012926.1:g.6797A>C , LRG_751:g.6797A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1961+221T>G (CLCN6) | ENSP00000496938.1:n.*1961+221T>G | |
ENST00000446542.5:n.781+221T>G (NPPA-AS1) | ||
ENST00000376476.1:c.*22A>C (NPPA) | ENSP00000365659.1:n.*22A>C | |
ENST00000376480.7:c.*22A>C (NPPA) MANE Select | ENSP00000365663.3:n.*22A>C | |
ENST00000610706.1:c.*16A>C (NPPA) | ENSP00000483195.1:n.*16A>C | |
NM_006172.3:c.*22A>C , LRG_751t1:c.*22A>C (NPPA) | NP_006163.1:n.*22A>C | |
NR_037806.1:n.1479+221T>G (NPPA-AS1) | ||
NM_006172.4:c.*22A>C (NPPA) MANE Select | NP_006163.1:n.*22A>C |