HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404861T>G , CM000665.2:g.190404861T>G | GRCh38 |
NC_000003.11:g.190122650T>G , CM000665.1:g.190122650T>G | GRCh37 |
NC_000003.10:g.191605344T>G | NCBI36 |
NG_008149.1:g.21810T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.317T>G MANE Select | ENSP00000264734.3:p.Leu106Arg | |
ENST00000456423.2:c.115-5042T>G | ENSP00000414136.2:n.115-5042T>G | |
ENST00000264734.2:c.527T>G | ENSP00000264734.2:p.Leu176Arg | |
ENST00000456423.1:c.325-5042T>G | ENSP00000414136.1:n.325-5042T>G | |
ENST00000468220.1:n.509T>G | ||
NM_006580.3:c.527T>G | NP_006571.1:p.Leu176Arg | |
NM_001378492.1:c.317T>G | NP_001365421.1:p.Leu106Arg | |
NM_001378493.1:c.317T>G | NP_001365422.1:p.Leu106Arg | |
NM_006580.4:c.317T>G MANE Select | NP_006571.2:p.Leu106Arg |