HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719812G>A , CM000678.2:g.88719812G>A | GRCh38 |
NC_000016.9:g.88786220G>A , CM000678.1:g.88786220G>A | GRCh37 |
NC_000016.8:g.87313721G>A | NCBI36 |
NG_042229.1:g.70409C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.6313C>T MANE Select | ENSP00000301015.9:p.Leu2105Phe | |
ENST00000466823.3:c.339C>T | ||
ENST00000301015.13:c.6313C>T | ENSP00000301015.9:p.Leu2105Phe | |
ENST00000419505.5:c.79C>T | ENSP00000406358.1:p.Leu27Phe | |
ENST00000466823.2:c.339C>T | ||
ENST00000495568.7:n.554C>T | ||
ENST00000497793.2:n.468C>T | ||
NM_001142864.2:c.6313C>T | NP_001136336.2:p.Leu2105Phe | |
NM_001142864.3:c.6313C>T | NP_001136336.2:p.Leu2105Phe | |
NM_001142864.4:c.6313C>T MANE Select | NP_001136336.2:p.Leu2105Phe |