HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6710846C>T , CM000681.2:g.6710846C>T | GRCh38 |
NC_000019.9:g.6710857C>T , CM000681.1:g.6710857C>T | GRCh37 |
NC_000019.8:g.6661857C>T | NCBI36 |
NG_009557.1:g.14806G>A , LRG_27:g.14806G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1357-1G>A | ENSP00000512083.1:n.1357-1G>A | |
ENST00000695654.1:c.604-1G>A | ENSP00000512085.1:n.604-1G>A | |
ENST00000695655.1:c.384G>A | ENSP00000512086.1:p.Gln128= | |
ENST00000695692.1:n.844-1G>A | ||
ENST00000245907.11:c.1480-1G>A MANE Select | ENSP00000245907.4:n.1480-1G>A | |
ENST00000245907.10:c.1480-1G>A | ENSP00000245907.4:n.1480-1G>A | |
ENST00000600763.1:n.112G>A | ||
NM_000064.3:c.1480-1G>A | NP_000055.2:n.1480-1G>A | |
NM_000064.4:c.1480-1G>A MANE Select | NP_000055.2:n.1480-1G>A |