HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67931996A>T , CM000666.2:g.67931996A>T | GRCh38 |
NC_000004.11:g.68797714A>T , CM000666.1:g.68797714A>T | GRCh37 |
NC_000004.10:g.68480309A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000508048.6:c.317T>A MANE Select | ENSP00000426911.2:p.Leu106Gln | |
ENST00000334830.11:c.326T>A | ENSP00000334611.7:p.Leu109Gln | |
ENST00000396188.3:c.317T>A | ENSP00000379491.3:p.Leu106Gln | |
ENST00000508048.5:c.317T>A | ENSP00000426911.2:p.Leu106Gln | |
ENST00000513536.5:c.257T>A | ENSP00000427621.1:p.Leu86Gln | |
NM_001114387.1:c.317T>A | NP_001107859.1:p.Leu106Gln | |
NM_182606.3:c.326T>A | NP_872412.3:p.Leu109Gln | |
NM_001114387.2:c.317T>A MANE Select | NP_001107859.1:p.Leu106Gln | |
NM_182606.4:c.326T>A | NP_872412.3:p.Leu109Gln |