HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410903T= , CM000677.2:g.48410903T= | GRCh38 |
NC_000015.9:g.48703100T= , CM000677.1:g.48703100T= | GRCh37 |
NC_000015.8:g.46490392T= | NCBI36 |
NG_008805.2:g.239886A= , LRG_778:g.239886A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1511A= | ENSP00000453958.2:n.*1511A= | |
ENST00000682158.1:n.2084A= | ||
ENST00000682170.1:n.2884A= | ||
ENST00000682767.1:n.2000A= | ||
ENST00000316623.10:c.*87A= MANE Select | ENSP00000325527.5:n.*87A= | |
ENST00000316623.9:c.*87A= | ENSP00000325527.5:n.*87A= | |
ENST00000559133.5:c.4072A= | ||
NM_000138.4:c.*87A= , LRG_778t1:c.*87A= | NP_000129.3:n.*87A= | |
NM_000138.5:c.*87A= MANE Select | NP_000129.3:n.*87A= |