HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11846060C= , CM000663.2:g.11846060C= | GRCh38 |
NC_000001.10:g.11906117C= , CM000663.1:g.11906117C= | GRCh37 |
NC_000001.9:g.11828704C= | NCBI36 |
NG_012926.1:g.6724G= , LRG_751:g.6724G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1961+294C= (CLCN6) | ENSP00000496938.1:n.*1961+294C= | |
ENST00000446542.5:n.781+294C= (NPPA-AS1) | ||
ENST00000376476.1:c.301-46G= (NPPA) | ENSP00000365659.1:n.301-46G= | |
ENST00000376480.7:c.451-46G= (NPPA) MANE Select | ENSP00000365663.3:n.451-46G= | |
ENST00000610706.1:c.451-46G= (NPPA) | ENSP00000483195.1:n.451-46G= | |
NM_006172.3:c.451-46G= , LRG_751t1:c.451-46G= (NPPA) | NP_006163.1:n.451-46G= | |
NR_037806.1:n.1479+294C= (NPPA-AS1) | ||
NM_006172.4:c.451-46G= (NPPA) MANE Select | NP_006163.1:n.451-46G= |