HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40867141C>G , CM000679.2:g.40867141C>G | GRCh38 |
NC_000017.10:g.39023393C>G , CM000679.1:g.39023393C>G | GRCh37 |
NC_000017.9:g.36276919C>G | NCBI36 |
NG_008077.1:g.5070G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251643.5:c.46G>C MANE Select | ENSP00000251643.4:p.Gly16Arg | |
ENST00000647902.1:c.46G>C | ENSP00000497770.1:p.Gly16Arg | |
ENST00000251643.4:c.46G>C | ENSP00000251643.4:p.Gly16Arg | |
NM_000223.3:c.46G>C | NP_000214.1:p.Gly16Arg | |
XR_934754.1:n.1500+16281C>G | ||
XR_934754.2:n.2008+16281C>G | ||
NM_000223.4:c.46G>C MANE Select | NP_000214.1:p.Gly16Arg |