HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169492911T>G , CM000664.2:g.169492911T>G | GRCh38 |
NC_000002.11:g.170349421T>G , CM000664.1:g.170349421T>G | GRCh37 |
NC_000002.10:g.170057667T>G | NCBI36 |
NG_011567.1:g.18416T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295240.8:c.424T>G MANE Select | ENSP00000295240.3:p.Leu142Val | |
ENST00000295240.7:c.424T>G | ENSP00000295240.3:p.Leu142Val | |
ENST00000392663.6:c.424T>G | ENSP00000376431.2:p.Leu142Val | |
ENST00000443151.1:c.*146T>G | ENSP00000406182.1:n.*146T>G | |
ENST00000475571.1:n.391T>G | ||
ENST00000513963.1:c.424T>G | ENSP00000424363.1:p.Leu142Val | |
NM_152384.2:c.424T>G | NP_689597.1:p.Leu142Val | |
NM_152384.3:c.424T>G MANE Select | NP_689597.1:p.Leu142Val |