HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145238A= , CM000670.2:g.38145238A= | GRCh38 |
NC_000008.10:g.38002756A= , CM000670.1:g.38002756A= | GRCh37 |
NC_000008.9:g.38121913A= | NCBI36 |
NG_011827.1:g.10845T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.728T= MANE Select | ENSP00000276449.3:p.Leu243= | |
ENST00000276449.8:c.728T= | ENSP00000276449.3:p.Leu243= | |
ENST00000520114.1:n.1862T= | ||
ENST00000522050.1:c.586+725T= | ||
NM_000349.2:c.728T= | NP_000340.2:p.Leu243= | |
XM_006716392.1:c.650+725T= | XP_006716455.1:n.650+725T= | |
NM_000349.3:c.728T= MANE Select | NP_000340.2:p.Leu243= |