HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135031412T>A , CM000667.2:g.135031412T>A | GRCh38 |
NC_000005.9:g.134367102T>A , CM000667.1:g.134367102T>A | GRCh37 |
NC_000005.8:g.134395001T>A | NCBI36 |
NG_012114.1:g.7863A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000265340.12:c.266A>T MANE Select | ENSP00000265340.6:p.Gln89Leu | |
ENST00000265340.11:c.266A>T | ENSP00000265340.6:p.Gln89Leu | |
ENST00000502676.1:c.266A>T | ENSP00000423624.1:p.Gln89Leu | |
ENST00000503586.1:c.388A>T | ||
ENST00000504936.1:n.599A>T | ||
ENST00000506438.5:c.266A>T | ENSP00000427542.1:p.Gln89Leu | |
ENST00000507253.5:c.266A>T | ENSP00000422908.1:p.Gln89Leu | |
NM_002653.4:c.266A>T | NP_002644.4:p.Gln89Leu | |
NM_002653.5:c.266A>T MANE Select | NP_002644.4:p.Gln89Leu |