HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713265G>C , CM000681.2:g.6713265G>C | GRCh38 |
NC_000019.9:g.6713276G>C , CM000681.1:g.6713276G>C | GRCh37 |
NC_000019.8:g.6664276G>C | NCBI36 |
NG_009557.1:g.12387C>G , LRG_27:g.12387C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.804C>G | ENSP00000512083.1:p.Asp268Glu | |
ENST00000695654.1:c.51C>G | ENSP00000512085.1:p.Asp17Glu | |
ENST00000695692.1:n.251C>G | ||
ENST00000245907.11:c.927C>G MANE Select | ENSP00000245907.4:p.Asp309Glu | |
ENST00000245907.10:c.927C>G | ENSP00000245907.4:p.Asp309Glu | |
ENST00000594270.5:n.51C>G | ||
ENST00000595577.1:n.431C>G | ||
ENST00000597442.5:n.177C>G | ||
NM_000064.3:c.927C>G | NP_000055.2:p.Asp309Glu | |
NM_000064.4:c.927C>G MANE Select | NP_000055.2:p.Asp309Glu |