HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130518T>A , CM000663.2:g.160130518T>A | GRCh38 |
NC_000001.10:g.160100308T>A , CM000663.1:g.160100308T>A | GRCh37 |
NC_000001.9:g.158366932T>A | NCBI36 |
NG_008014.1:g.19761T>A , LRG_6:g.19761T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.1748T>A MANE Select | ENSP00000354490.3:p.Val583Glu | |
ENST00000361216.7:c.1748T>A | ENSP00000354490.3:p.Val583Glu | |
ENST00000392233.7:c.1748T>A | ENSP00000376066.3:p.Val583Glu | |
ENST00000447527.1:c.880T>A | ||
ENST00000472488.5:n.1851T>A | ||
NM_000702.3:c.1748T>A | NP_000693.1:p.Val583Glu | |
NM_000702.4:c.1748T>A MANE Select | NP_000693.1:p.Val583Glu |