HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40867060C>A , CM000679.2:g.40867060C>A | GRCh38 |
NC_000017.10:g.39023312C>A , CM000679.1:g.39023312C>A | GRCh37 |
NC_000017.9:g.36276838C>A | NCBI36 |
NG_008077.1:g.5151G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251643.5:c.127G>T MANE Select | ENSP00000251643.4:p.Gly43Trp | |
ENST00000647902.1:c.127G>T | ENSP00000497770.1:p.Gly43Trp | |
ENST00000251643.4:c.127G>T | ENSP00000251643.4:p.Gly43Trp | |
NM_000223.3:c.127G>T | NP_000214.1:p.Gly43Trp | |
XR_934754.1:n.1500+16200C>A | ||
XR_934754.2:n.2008+16200C>A | ||
NM_000223.4:c.127G>T MANE Select | NP_000214.1:p.Gly43Trp |