HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48633478T>C , CM000681.2:g.48633478T>C | GRCh38 |
NC_000019.9:g.49136735T>C , CM000681.1:g.49136735T>C | GRCh37 |
NC_000019.8:g.53828547T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222122.10:c.728A>G MANE Select | ENSP00000222122.4:p.Lys243Arg | |
ENST00000222122.9:c.728A>G | ENSP00000222122.4:p.Lys243Arg | |
ENST00000593500.1:c.122A>G | ENSP00000471220.1:p.Lys41Arg | |
ENST00000594723.1:n.2971A>G | ||
ENST00000599385.5:c.122A>G | ENSP00000469426.1:p.Lys41Arg | |
ENST00000601104.1:c.728A>G | ENSP00000469291.1:p.Lys243Arg | |
NM_001352.4:c.728A>G | NP_001343.2:p.Lys243Arg | |
XM_017026388.2:c.299A>G | XP_016881877.1:p.Lys100Arg | |
XR_243907.4:n.1633A>G | ||
NM_001352.5:c.728A>G MANE Select | NP_001343.2:p.Lys243Arg |