HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145225G>C , CM000670.2:g.38145225G>C | GRCh38 |
NC_000008.10:g.38002743G>C , CM000670.1:g.38002743G>C | GRCh37 |
NC_000008.9:g.38121900G>C | NCBI36 |
NG_011827.1:g.10858C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.741C>G MANE Select | ENSP00000276449.3:p.Leu247= | |
ENST00000276449.8:c.741C>G | ENSP00000276449.3:p.Leu247= | |
ENST00000520114.1:n.1875C>G | ||
ENST00000522050.1:c.586+738C>G | ||
NM_000349.2:c.741C>G | NP_000340.2:p.Leu247= | |
XM_006716392.1:c.650+738C>G | XP_006716455.1:n.650+738C>G | |
NM_000349.3:c.741C>G MANE Select | NP_000340.2:p.Leu247= |