HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709757G>A , CM000681.2:g.6709757G>A | GRCh38 |
NC_000019.9:g.6709768G>A , CM000681.1:g.6709768G>A | GRCh37 |
NC_000019.8:g.6660768G>A | NCBI36 |
NG_009557.1:g.15895C>T , LRG_27:g.15895C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1649C>T | ENSP00000512083.1:p.Ala550Val | |
ENST00000695654.1:c.896C>T | ENSP00000512085.1:p.Ala299Val | |
ENST00000695655.1:c.713C>T | ENSP00000512086.1:n.713C>T | |
ENST00000695692.1:n.1136C>T | ||
ENST00000245907.11:c.1772C>T MANE Select | ENSP00000245907.4:p.Ala591Val | |
ENST00000245907.10:c.1772C>T | ENSP00000245907.4:p.Ala591Val | |
ENST00000600763.1:n.405C>T | ||
NM_000064.3:c.1772C>T | NP_000055.2:p.Ala591Val | |
NM_000064.4:c.1772C>T MANE Select | NP_000055.2:p.Ala591Val |