HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80273451G= , CM000672.2:g.80273451G= | GRCh38 |
NC_000010.10:g.82033207G= , CM000672.1:g.82033207G= | GRCh37 |
NC_000010.9:g.82023187G= | NCBI36 |
NG_008083.1:g.21228C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.*330C= MANE Select | ENSP00000361287.3:n.*330C= | |
ENST00000372213.7:c.*330C= | ENSP00000361287.3:n.*330C= | |
ENST00000480845.1:n.620+130C= | ||
ENST00000485270.5:n.1030C= | ||
NM_000429.2:c.*330C= | NP_000420.1:n.*330C= | |
XM_005269842.3:c.*330C= | XP_005269899.1:n.*330C= | |
XM_005269843.3:c.*330C= | XP_005269900.1:n.*330C= | |
NM_000429.3:c.*330C= MANE Select | NP_000420.1:n.*330C= |