HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586442A= , CM000673.2:g.67586442A= | GRCh38 |
NC_000011.9:g.67353913A= , CM000673.1:g.67353913A= | GRCh37 |
NC_000011.8:g.67110489A= | NCBI36 |
NG_012075.1:g.7848A= , LRG_723:g.7848A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.390A= | ENSP00000381604.1:p.Leu130= | |
ENST00000398606.10:c.498A= MANE Select | ENSP00000381607.3:p.Leu166= | |
ENST00000646888.1:c.*214A= | ENSP00000494477.1:n.*214A= | |
ENST00000398603.5:c.390A= | ENSP00000381604.1:p.Leu130= | |
ENST00000398606.7:c.498A= | ENSP00000381607.3:p.Leu166= | |
ENST00000467591.1:n.609A= | ||
ENST00000494593.1:n.1470A= | ||
ENST00000498765.5:c.561A= | ||
NM_000852.3:c.498A= , LRG_723t1:c.498A= | NP_000843.1:p.Leu166= | |
NM_000852.4:c.498A= MANE Select | NP_000843.1:p.Leu166= |