HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410981G= , CM000677.2:g.48410981G= | GRCh38 |
NC_000015.9:g.48703178G= , CM000677.1:g.48703178G= | GRCh37 |
NC_000015.8:g.46490470G= | NCBI36 |
NG_008805.2:g.239808C= , LRG_778:g.239808C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1433C= | ENSP00000453958.2:n.*1433C= | |
ENST00000682158.1:n.2006C= | ||
ENST00000682170.1:n.2806C= | ||
ENST00000682767.1:n.1922C= | ||
ENST00000316623.10:c.*9C= MANE Select | ENSP00000325527.5:n.*9C= | |
ENST00000316623.9:c.*9C= | ENSP00000325527.5:n.*9C= | |
ENST00000559133.5:c.3994C= | ||
NM_000138.4:c.*9C= , LRG_778t1:c.*9C= | NP_000129.3:n.*9C= | |
NM_000138.5:c.*9C= MANE Select | NP_000129.3:n.*9C= |