HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071284T>A , CM000664.2:g.29071284T>A | GRCh38 |
NC_000002.11:g.29294150T>A , CM000664.1:g.29294150T>A | GRCh37 |
NC_000002.10:g.29147654T>A | NCBI36 |
NG_021427.1:g.7978A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331664.6:c.2978A>T MANE Select | ENSP00000332809.4:p.Lys993Met | |
ENST00000331664.5:c.2978A>T | ENSP00000332809.4:p.Lys993Met | |
NM_001029883.2:c.2978A>T | NP_001025054.1:p.Lys993Met | |
XM_011532826.1:c.2978A>T | XP_011531128.1:p.Lys993Met | |
XR_939901.1:n.185+2117T>A | ||
XR_939902.1:n.173+2129T>A | ||
NM_001029883.3:c.2978A>T MANE Select | NP_001025054.1:p.Lys993Met |