HGVS | Genome Assembly |
---|---|
NC_000003.12:g.33114453C>G , CM000665.2:g.33114453C>G | GRCh38 |
NC_000003.11:g.33155945C>G , CM000665.1:g.33155945C>G | GRCh37 |
NC_000003.10:g.33130949C>G | NCBI36 |
NG_008122.1:g.5496C>G , LRG_4:g.5496C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320954.11:c.376C>G MANE Select | ENSP00000323696.5:p.Leu126Val | |
ENST00000320954.10:c.376C>G | ENSP00000323696.5:p.Leu126Val | |
ENST00000449224.1:c.376C>G | ENSP00000409997.1:p.Leu126Val | |
NM_006371.4:c.376C>G , LRG_4t1:c.376C>G | NP_006362.1:p.Leu126Val | |
NM_006371.5:c.376C>G MANE Select | NP_006362.1:p.Leu126Val | |
NM_001393363.1:c.376C>G | NP_001380292.1:p.Leu126Val | |
NM_001393364.1:c.376C>G | NP_001380293.1:p.Leu126Val | |
NM_001393365.1:c.376C>G | NP_001380294.1:p.Leu126Val |