HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404824C>G , CM000665.2:g.190404824C>G | GRCh38 |
NC_000003.11:g.190122613C>G , CM000665.1:g.190122613C>G | GRCh37 |
NC_000003.10:g.191605307C>G | NCBI36 |
NG_008149.1:g.21773C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.280C>G MANE Select | ENSP00000264734.3:p.Leu94Val | |
ENST00000456423.2:c.115-5079C>G | ENSP00000414136.2:n.115-5079C>G | |
ENST00000264734.2:c.490C>G | ENSP00000264734.2:p.Leu164Val | |
ENST00000456423.1:c.325-5079C>G | ENSP00000414136.1:n.325-5079C>G | |
ENST00000468220.1:n.472C>G | ||
NM_006580.3:c.490C>G | NP_006571.1:p.Leu164Val | |
NM_001378492.1:c.280C>G | NP_001365421.1:p.Leu94Val | |
NM_001378493.1:c.280C>G | NP_001365422.1:p.Leu94Val | |
NM_006580.4:c.280C>G MANE Select | NP_006571.2:p.Leu94Val |