HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11846023A>C , CM000663.2:g.11846023A>C | GRCh38 |
NC_000001.10:g.11906080A>C , CM000663.1:g.11906080A>C | GRCh37 |
NC_000001.9:g.11828667A>C | NCBI36 |
NG_012926.1:g.6761T>G , LRG_751:g.6761T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1961+257A>C (CLCN6) | ENSP00000496938.1:n.*1961+257A>C | |
ENST00000446542.5:n.781+257A>C (NPPA-AS1) | ||
ENST00000376476.1:c.301-9T>G (NPPA) | ENSP00000365659.1:n.301-9T>G | |
ENST00000376480.7:c.451-9T>G (NPPA) MANE Select | ENSP00000365663.3:n.451-9T>G | |
ENST00000610706.1:c.451-9T>G (NPPA) | ENSP00000483195.1:n.451-9T>G | |
NM_006172.3:c.451-9T>G , LRG_751t1:c.451-9T>G (NPPA) | NP_006163.1:n.451-9T>G | |
NR_037806.1:n.1479+257A>C (NPPA-AS1) | ||
NM_006172.4:c.451-9T>G (NPPA) MANE Select | NP_006163.1:n.451-9T>G |