HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410973G= , CM000677.2:g.48410973G= | GRCh38 |
NC_000015.9:g.48703170G= , CM000677.1:g.48703170G= | GRCh37 |
NC_000015.8:g.46490462G= | NCBI36 |
NG_008805.2:g.239816C= , LRG_778:g.239816C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1441C= | ENSP00000453958.2:n.*1441C= | |
ENST00000682158.1:n.2014C= | ||
ENST00000682170.1:n.2814C= | ||
ENST00000682767.1:n.1930C= | ||
ENST00000316623.10:c.*17C= MANE Select | ENSP00000325527.5:n.*17C= | |
ENST00000316623.9:c.*17C= | ENSP00000325527.5:n.*17C= | |
ENST00000559133.5:c.4002C= | ||
NM_000138.4:c.*17C= , LRG_778t1:c.*17C= | NP_000129.3:n.*17C= | |
NM_000138.5:c.*17C= MANE Select | NP_000129.3:n.*17C= |