HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942732G= , CM000678.2:g.67942732G= | GRCh38 |
NC_000016.9:g.67976635G= , CM000678.1:g.67976635G= | GRCh37 |
NC_000016.8:g.66534136G= | NCBI36 |
NG_009778.1:g.6381C= | |
NG_033098.1:g.30963C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.462C= MANE Select | ENSP00000264005.5:p.Asn154= | |
ENST00000264005.9:c.462C= | ENSP00000264005.5:p.Asn154= | |
ENST00000570369.5:c.155+129C= | ||
ENST00000570980.1:c.246C= | ENSP00000464651.1:p.Asn82= | |
ENST00000573538.5:c.105C= | ENSP00000463220.1:p.Asn35= | |
ENST00000573846.1:n.76C= | ||
ENST00000575277.1:n.240C= | ||
ENST00000575467.5:c.*157C= | ENSP00000460653.1:n.*157C= | |
NM_000229.1:c.462C= | NP_000220.1:p.Asn154= | |
NM_000229.2:c.462C= MANE Select | NP_000220.1:p.Asn154= |