HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7502628G>T , CM000679.2:g.7502628G>T | GRCh38 |
NC_000017.10:g.7405947G>T , CM000679.1:g.7405947G>T | GRCh37 |
NC_000017.9:g.7346671G>T | NCBI36 |
NG_027747.1:g.23250G>T | |
NG_027747.2:g.23250G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000617998.6:n.3082G>T | ||
ENST00000674977.2:c.2683G>T | ENSP00000502190.2:p.Gly895Cys | |
ENST00000576114.1:n.149G>T | ||
ENST00000617998.4:c.2683G>T | ENSP00000480158.1:p.Gly895Cys | |
ENST00000621442.4:c.2683G>T | ENSP00000483957.1:p.Gly895Cys | |
NM_000937.4:c.2683G>T | NP_000928.1:p.Gly895Cys | |
NM_000937.5:c.2683G>T MANE Select | NP_000928.1:p.Gly895Cys |