HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404834T>G , CM000665.2:g.190404834T>G | GRCh38 |
NC_000003.11:g.190122623T>G , CM000665.1:g.190122623T>G | GRCh37 |
NC_000003.10:g.191605317T>G | NCBI36 |
NG_008149.1:g.21783T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.290T>G MANE Select | ENSP00000264734.3:p.Leu97Arg | |
ENST00000456423.2:c.115-5069T>G | ENSP00000414136.2:n.115-5069T>G | |
ENST00000264734.2:c.500T>G | ENSP00000264734.2:p.Leu167Arg | |
ENST00000456423.1:c.325-5069T>G | ENSP00000414136.1:n.325-5069T>G | |
ENST00000468220.1:n.482T>G | ||
NM_006580.3:c.500T>G | NP_006571.1:p.Leu167Arg | |
NM_001378492.1:c.290T>G | NP_001365421.1:p.Leu97Arg | |
NM_001378493.1:c.290T>G | NP_001365422.1:p.Leu97Arg | |
NM_006580.4:c.290T>G MANE Select | NP_006571.2:p.Leu97Arg |