HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713419G>T , CM000681.2:g.6713419G>T | GRCh38 |
NC_000019.9:g.6713430G>T , CM000681.1:g.6713430G>T | GRCh37 |
NC_000019.8:g.6664430G>T | NCBI36 |
NG_009557.1:g.12233C>A , LRG_27:g.12233C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.741C>A | ENSP00000512083.1:p.Leu247= | |
ENST00000695692.1:n.188C>A | ||
ENST00000245907.11:c.864C>A MANE Select | ENSP00000245907.4:p.Leu288= | |
ENST00000245907.10:c.864C>A | ENSP00000245907.4:p.Leu288= | |
ENST00000595577.1:n.368C>A | ||
ENST00000597442.5:n.114C>A | ||
NM_000064.3:c.864C>A | NP_000055.2:p.Leu288= | |
NM_000064.4:c.864C>A MANE Select | NP_000055.2:p.Leu288= |