HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071285T>A , CM000664.2:g.29071285T>A | GRCh38 |
NC_000002.11:g.29294151T>A , CM000664.1:g.29294151T>A | GRCh37 |
NC_000002.10:g.29147655T>A | NCBI36 |
NG_021427.1:g.7977A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331664.6:c.2977A>T MANE Select | ENSP00000332809.4:p.Lys993Ter | |
ENST00000331664.5:c.2977A>T | ENSP00000332809.4:p.Lys993Ter | |
NM_001029883.2:c.2977A>T | NP_001025054.1:p.Lys993Ter | |
XM_011532826.1:c.2977A>T | XP_011531128.1:p.Lys993Ter | |
XR_939901.1:n.185+2118T>A | ||
XR_939902.1:n.173+2130T>A | ||
NM_001029883.3:c.2977A>T MANE Select | NP_001025054.1:p.Lys993Ter |