HGVS | Genome Assembly |
---|---|
NC_000012.12:g.89350787G>A , CM000674.2:g.89350787G>A | GRCh38 |
NC_000012.11:g.89744564G>A , CM000674.1:g.89744564G>A | GRCh37 |
NC_000012.10:g.88268695G>A | NCBI36 |
NG_033915.1:g.7073C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000279488.8:c.639C>T MANE Select | ENSP00000279488.6:p.Phe213= | |
ENST00000279488.7:c.639C>T | ENSP00000279488.6:p.Phe213= | |
ENST00000308385.6:c.400+853C>T | ENSP00000307835.6:n.400+853C>T | |
ENST00000547140.1:n.325C>T | ||
ENST00000547291.1:c.264C>T | ENSP00000449838.1:p.Phe88= | |
NM_001946.3:c.639C>T | NP_001937.2:p.Phe213= | |
NM_022652.3:c.400+853C>T | NP_073143.2:n.400+853C>T | |
NM_001946.4:c.639C>T MANE Select | NP_001937.2:p.Phe213= | |
NM_022652.4:c.400+853C>T | NP_073143.2:n.400+853C>T |