HGVS | Genome Assembly |
---|---|
NC_000023.11:g.67723688T>G , CM000685.2:g.67723688T>G | GRCh38 |
NC_000023.10:g.66943530T>G , CM000685.1:g.66943530T>G | GRCh37 |
NC_000023.9:g.66860255T>G | NCBI36 |
NG_009014.2:g.184657T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396043.4:c.*958T>G | ENSP00000379358.4:n.*958T>G | |
ENST00000374690.9:c.2610T>G MANE Select | ENSP00000363822.3:p.Ile870Met | |
ENST00000396043.3:c.1237T>G | ENSP00000379358.3:n.1237T>G | |
ENST00000396044.8:c.2176T>G | ENSP00000379359.3:p.Cys726Gly | |
ENST00000612452.5:c.2610T>G | ENSP00000484033.2:p.Ile870Met | |
ENST00000374690.7:c.2610T>G | ENSP00000363822.3:p.Ile870Met | |
ENST00000396043.2:c.1014T>G | ENSP00000379358.2:p.Ile338Met | |
ENST00000396044.7:c.2176T>G | ENSP00000379359.3:p.Cys726Gly | |
ENST00000612452.4:c.2061T>G | ENSP00000484033.1:p.Ile687Met | |
NM_000044.3:c.2610T>G | NP_000035.2:p.Ile870Met | |
NM_001011645.2:c.1014T>G | NP_001011645.1:p.Ile338Met | |
NM_000044.4:c.2610T>G | NP_000035.2:p.Ile870Met | |
NM_001011645.3:c.1014T>G | NP_001011645.1:p.Ile338Met | |
NM_000044.6:c.2610T>G MANE Select | NP_000035.2:p.Ile870Met |