HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154810G>T , CM000668.2:g.3154810G>T | GRCh38 |
NC_000006.11:g.3155044G>T , CM000668.1:g.3155044G>T | GRCh37 |
NC_000006.10:g.3100043G>T | NCBI36 |
NG_042223.1:g.7740C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.391C>A MANE Select | ENSP00000369703.2:p.Gln131Lys | |
ENST00000679400.1:n.447C>A | ||
ENST00000679907.1:n.779C>A | ||
ENST00000680036.1:n.1173C>A | ||
ENST00000680967.1:n.1481C>A | ||
ENST00000333628.3:c.391C>A | ENSP00000369703.2:p.Gln131Lys | |
ENST00000489942.1:n.586C>A | ||
NM_001069.2:c.391C>A | NP_001060.1:p.Gln131Lys | |
NM_001310315.1:c.136C>A | NP_001297244.1:p.Gln46Lys | |
NM_001069.3:c.391C>A MANE Select | NP_001060.1:p.Gln131Lys | |
NM_001310315.2:c.136C>A | NP_001297244.1:p.Gln46Lys |