HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582457G>T , CM000673.2:g.47582457G>T | GRCh38 |
NC_000011.9:g.47604009G>T , CM000673.1:g.47604009G>T | GRCh37 |
NC_000011.8:g.47560585G>T | NCBI36 |
NG_011946.1:g.8448G>T | |
NG_011946.2:g.8448G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.616G>T MANE Select | ENSP00000263774.4:p.Gly206Cys | |
ENST00000531351.2:n.1811G>T | ||
ENST00000677462.1:n.3090G>T | ||
ENST00000678975.1:n.2873G>T | ||
ENST00000263774.8:c.616G>T | ENSP00000263774.4:p.Gly206Cys | |
ENST00000524568.1:n.719G>T | ||
ENST00000525212.1:n.271G>T | ||
ENST00000525378.5:n.554G>T | ||
ENST00000527178.1:n.216G>T | ||
ENST00000533507.5:n.1510G>T | ||
NM_004551.2:c.616G>T | NP_004542.1:p.Gly206Cys | |
NM_004551.3:c.616G>T MANE Select | NP_004542.1:p.Gly206Cys |