HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48421560T= , CM000677.2:g.48421560T= | GRCh38 |
NC_000015.9:g.48713757T= , CM000677.1:g.48713757T= | GRCh37 |
NC_000015.8:g.46501049T= | NCBI36 |
NG_008805.2:g.229229A= , LRG_778:g.229229A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*505A= | ENSP00000453958.2:n.*505A= | |
ENST00000674301.2:c.*1210A= | ENSP00000501333.2:n.*1210A= | |
ENST00000682170.1:n.1878A= | ||
ENST00000682767.1:n.994A= | ||
ENST00000316623.10:c.7697A= MANE Select | ENSP00000325527.5:p.Glu2566= | |
ENST00000674301.1:c.2863A= | ENSP00000501333.1:n.2863A= | |
ENST00000316623.9:c.7697A= | ENSP00000325527.5:p.Glu2566= | |
ENST00000559133.5:c.3066A= | ||
NM_000138.4:c.7697A= , LRG_778t1:c.7697A= | NP_000129.3:p.Glu2566= | |
NM_000138.5:c.7697A= MANE Select | NP_000129.3:p.Glu2566= |