HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352529T>A , CM000671.2:g.133352529T>A | GRCh38 |
NC_000009.10:g.135209205T>A | NCBI36 |
NG_008477.1:g.8978A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371974.8:c.668A>T MANE Select | ENSP00000361042.3:p.Glu223Val | |
ENST00000371974.7:c.668A>T | ENSP00000361042.3:p.Glu223Val | |
ENST00000437995.1:n.578A>T | ||
ENST00000495952.5:n.658A>T | ||
ENST00000615505.4:c.341A>T | ENSP00000482067.1:p.Glu114Val | |
NM_001280787.1:c.341A>T | NP_001267716.1:p.Glu114Val | |
NM_003172.3:c.668A>T | NP_003163.1:p.Glu223Val | |
XM_011518942.1:c.341A>T | XP_011517244.1:p.Glu114Val | |
NM_003172.4:c.668A>T MANE Select | NP_003163.1:p.Glu223Val |