HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11845817T>C , CM000663.2:g.11845817T>C | GRCh38 |
NC_000001.10:g.11905874T>C , CM000663.1:g.11905874T>C | GRCh37 |
NC_000001.9:g.11828461T>C | NCBI36 |
NG_012926.1:g.6967A>G , LRG_751:g.6967A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1961+51T>C (CLCN6) | ENSP00000496938.1:n.*1961+51T>C | |
ENST00000446542.5:n.781+51T>C (NPPA-AS1) | ||
ENST00000376480.7:c.*192A>G (NPPA) MANE Select | ENSP00000365663.3:n.*192A>G | |
ENST00000610706.1:c.*186A>G (NPPA) | ENSP00000483195.1:n.*186A>G | |
NM_006172.3:c.*192A>G , LRG_751t1:c.*192A>G (NPPA) | NP_006163.1:n.*192A>G | |
NR_037806.1:n.1479+51T>C (NPPA-AS1) | ||
NM_006172.4:c.*192A>G (NPPA) MANE Select | NP_006163.1:n.*192A>G |