HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154805G>C , CM000668.2:g.3154805G>C | GRCh38 |
NC_000006.11:g.3155039G>C , CM000668.1:g.3155039G>C | GRCh37 |
NC_000006.10:g.3100038G>C | NCBI36 |
NG_042223.1:g.7745C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.396C>G MANE Select | ENSP00000369703.2:p.Gly132= | |
ENST00000679400.1:n.452C>G | ||
ENST00000679907.1:n.784C>G | ||
ENST00000680036.1:n.1178C>G | ||
ENST00000680967.1:n.1486C>G | ||
ENST00000333628.3:c.396C>G | ENSP00000369703.2:p.Gly132= | |
ENST00000489942.1:n.591C>G | ||
NM_001069.2:c.396C>G | NP_001060.1:p.Gly132= | |
NM_001310315.1:c.141C>G | NP_001297244.1:p.Gly47= | |
NM_001069.3:c.396C>G MANE Select | NP_001060.1:p.Gly132= | |
NM_001310315.2:c.141C>G | NP_001297244.1:p.Gly47= |