HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154634G>T , CM000668.2:g.3154634G>T | GRCh38 |
NC_000006.11:g.3154868G>T , CM000668.1:g.3154868G>T | GRCh37 |
NC_000006.10:g.3099867G>T | NCBI36 |
NG_042223.1:g.7916C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.567C>A MANE Select | ENSP00000369703.2:p.Val189= | |
ENST00000679400.1:n.623C>A | ||
ENST00000679907.1:n.955C>A | ||
ENST00000680036.1:n.1349C>A | ||
ENST00000680967.1:n.1657C>A | ||
ENST00000333628.3:c.567C>A | ENSP00000369703.2:p.Val189= | |
ENST00000489942.1:n.762C>A | ||
NM_001069.2:c.567C>A | NP_001060.1:p.Val189= | |
NM_001310315.1:c.312C>A | NP_001297244.1:p.Val104= | |
NM_001069.3:c.567C>A MANE Select | NP_001060.1:p.Val189= | |
NM_001310315.2:c.312C>A | NP_001297244.1:p.Val104= |