HGVS | Genome Assembly |
---|---|
NC_000010.11:g.102835295A>C , CM000672.2:g.102835295A>C | GRCh38 |
NC_000010.10:g.104595052A>C , CM000672.1:g.104595052A>C | GRCh37 |
NC_000010.9:g.104585042A>C | NCBI36 |
NG_007955.1:g.7239T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369887.4:c.395T>G MANE Select | ENSP00000358903.3:p.Phe132Cys | |
ENST00000638190.1:c.395T>G | ENSP00000492539.1:p.Phe132Cys | |
ENST00000638272.1:c.297+1770T>G | ENSP00000491508.1:n.297+1770T>G | |
ENST00000638971.1:c.395T>G | ENSP00000492313.1:p.Phe132Cys | |
ENST00000639393.1:c.395T>G | ENSP00000492651.1:p.Phe132Cys | |
ENST00000640633.1:n.157T>G | ||
ENST00000369887.3:c.395T>G | ENSP00000358903.3:p.Phe132Cys | |
ENST00000489268.1:n.649T>G | ||
NM_000102.3:c.395T>G | NP_000093.1:p.Phe132Cys | |
NM_000102.4:c.395T>G MANE Select | NP_000093.1:p.Phe132Cys |