HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145239G= , CM000670.2:g.38145239G= | GRCh38 |
NC_000008.10:g.38002757G= , CM000670.1:g.38002757G= | GRCh37 |
NC_000008.9:g.38121914G= | NCBI36 |
NG_011827.1:g.10844C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.727C= MANE Select | ENSP00000276449.3:p.Leu243= | |
ENST00000276449.8:c.727C= | ENSP00000276449.3:p.Leu243= | |
ENST00000520114.1:n.1861C= | ||
ENST00000522050.1:c.586+724C= | ||
NM_000349.2:c.727C= | NP_000340.2:p.Leu243= | |
XM_006716392.1:c.650+724C= | XP_006716455.1:n.650+724C= | |
NM_000349.3:c.727C= MANE Select | NP_000340.2:p.Leu243= |