HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169492901T>G , CM000664.2:g.169492901T>G | GRCh38 |
NC_000002.11:g.170349411T>G , CM000664.1:g.170349411T>G | GRCh37 |
NC_000002.10:g.170057657T>G | NCBI36 |
NG_011567.1:g.18406T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295240.8:c.414T>G MANE Select | ENSP00000295240.3:p.Arg138= | |
ENST00000295240.7:c.414T>G | ENSP00000295240.3:p.Arg138= | |
ENST00000392663.6:c.414T>G | ENSP00000376431.2:p.Arg138= | |
ENST00000443151.1:c.*136T>G | ENSP00000406182.1:n.*136T>G | |
ENST00000475571.1:n.381T>G | ||
ENST00000513963.1:c.414T>G | ENSP00000424363.1:p.Arg138= | |
NM_152384.2:c.414T>G | NP_689597.1:p.Arg138= | |
NM_152384.3:c.414T>G MANE Select | NP_689597.1:p.Arg138= |