HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169487832A>G , CM000664.2:g.169487832A>G | GRCh38 |
NC_000002.11:g.170344342A>G , CM000664.1:g.170344342A>G | GRCh37 |
NC_000002.10:g.170052588A>G | NCBI36 |
NG_011567.1:g.13337A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295240.8:c.235A>G MANE Select | ENSP00000295240.3:p.Ile79Val | |
ENST00000295240.7:c.235A>G | ENSP00000295240.3:p.Ile79Val | |
ENST00000392663.6:c.235A>G | ENSP00000376431.2:p.Ile79Val | |
ENST00000443151.1:c.143-155A>G | ENSP00000406182.1:n.143-155A>G | |
ENST00000475571.1:n.71A>G | ||
ENST00000513963.1:c.235A>G | ENSP00000424363.1:p.Ile79Val | |
NM_152384.2:c.235A>G | NP_689597.1:p.Ile79Val | |
NM_152384.3:c.235A>G MANE Select | NP_689597.1:p.Ile79Val |