HGVS | Genome Assembly |
---|---|
NC_000003.12:g.46439310A>C , CM000665.2:g.46439310A>C | GRCh38 |
NC_000003.11:g.46480801A>C , CM000665.1:g.46480801A>C | GRCh37 |
NC_000003.10:g.46455805A>C | NCBI36 |
NG_023257.1:g.30595T>G | |
NG_023257.2:g.50925T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231751.9:c.1894T>G MANE Select | ENSP00000231751.4:p.Leu632Val | |
ENST00000231751.8:c.1894T>G | ENSP00000231751.4:p.Leu632Val | |
ENST00000417439.5:c.1888T>G | ENSP00000405546.1:p.Leu630Val | |
ENST00000426532.6:c.1762T>G | ENSP00000405719.2:p.Leu588Val | |
ENST00000443496.5:c.1855T>G | ENSP00000397427.1:p.Leu619Val | |
ENST00000478874.2:n.417T>G | ||
ENST00000493056.5:n.383T>G | ||
NM_001199149.1:c.1762T>G | NP_001186078.1:p.Leu588Val | |
NM_002343.4:c.1894T>G | NP_002334.2:p.Leu632Val | |
NM_001321121.1:c.1888T>G | NP_001308050.1:p.Leu630Val | |
NM_001321122.1:c.1855T>G | NP_001308051.1:p.Leu619Val | |
NM_002343.5:c.1894T>G | NP_002334.2:p.Leu632Val | |
NM_001199149.2:c.1762T>G | NP_001186078.1:p.Leu588Val | |
NM_001321121.2:c.1888T>G | NP_001308050.1:p.Leu630Val | |
NM_002343.6:c.1894T>G MANE Select | NP_002334.2:p.Leu632Val | |
NM_001321122.2:c.1855T>G | NP_001308051.1:p.Leu619Val |