HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719843G= , CM000678.2:g.88719843G= | GRCh38 |
NC_000016.9:g.88786251G= , CM000678.1:g.88786251G= | GRCh37 |
NC_000016.8:g.87313752G= | NCBI36 |
NG_042229.1:g.70378C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.6282C= MANE Select | ENSP00000301015.9:p.Leu2094= | |
ENST00000466823.3:c.308C= | ||
ENST00000301015.13:c.6282C= | ENSP00000301015.9:p.Leu2094= | |
ENST00000419505.5:c.48C= | ENSP00000406358.1:p.Leu16= | |
ENST00000466823.2:c.308C= | ||
ENST00000495568.7:n.523C= | ||
ENST00000497793.2:n.437C= | ||
NM_001142864.2:c.6282C= | NP_001136336.2:p.Leu2094= | |
NM_001142864.3:c.6282C= | NP_001136336.2:p.Leu2094= | |
NM_001142864.4:c.6282C= MANE Select | NP_001136336.2:p.Leu2094= |