HGVS | Genome Assembly |
---|---|
NC_000014.9:g.20892132A>G , CM000676.2:g.20892132A>G | GRCh38 |
NC_000014.8:g.21360291A>G , CM000676.1:g.21360291A>G | GRCh37 |
NC_000014.7:g.20430131A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304639.4:c.446A>G MANE Select | ENSP00000302324.3:p.Tyr149Cys | |
ENST00000304639.3:c.446A>G | ENSP00000302324.3:p.Tyr149Cys | |
NM_002935.2:c.446A>G | NP_002926.2:p.Tyr149Cys | |
XR_110261.2:n.209-16389T>C | ||
XR_110261.3:n.726-16389T>C | ||
NM_002935.3:c.446A>G MANE Select | NP_002926.2:p.Tyr149Cys |