HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320505T= , CM000667.2:g.159320505T= | GRCh38 |
NC_000005.9:g.158747513T= , CM000667.1:g.158747513T= | GRCh37 |
NC_000005.8:g.158680091T= | NCBI36 |
NG_009618.1:g.14969A= , LRG_71:g.14969A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-133A= | ENSP00000512849.1:n.-133A= | |
ENST00000696751.1:c.380A= | ENSP00000512850.1:p.Lys127= | |
ENST00000231228.3:c.498A= MANE Select | ENSP00000231228.2:p.Gln166= | |
ENST00000231228.2:c.498A= | ENSP00000231228.2:p.Gln166= | |
NM_002187.2:c.498A= , LRG_71t1:c.498A= | NP_002178.2:p.Gln166= | |
XR_001742945.1:n.56T= | ||
NM_002187.3:c.498A= MANE Select | NP_002178.2:p.Gln166= |