HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218652C>G , CM000676.2:g.93218652C>G | GRCh38 |
NC_000014.8:g.93684998C>G , CM000676.1:g.93684998C>G | GRCh37 |
NC_000014.7:g.92754751C>G | NCBI36 |
NG_051089.1:g.16597C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000013070.11:c.727C>G MANE Select | ENSP00000013070.6:p.Gln243Glu | |
ENST00000013070.10:c.727C>G | ENSP00000013070.6:p.Gln243Glu | |
ENST00000416753.5:c.499C>G | ENSP00000391706.2:p.Gln167Glu | |
ENST00000553674.1:c.*428C>G | ENSP00000450470.1:n.*428C>G | |
ENST00000553857.5:c.378+3371C>G | ||
ENST00000556871.5:c.436C>G | ENSP00000451022.1:p.Gln146Glu | |
NM_175748.3:c.727C>G | NP_786924.2:p.Gln243Glu | |
NR_038150.1:n.829C>G | ||
NM_175748.4:c.727C>G MANE Select | NP_786924.2:p.Gln243Glu | |
NR_038150.2:n.629C>G |