HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29073130C>T , CM000664.2:g.29073130C>T | GRCh38 |
NC_000002.11:g.29295996C>T , CM000664.1:g.29295996C>T | GRCh37 |
NC_000002.10:g.29149500C>T | NCBI36 |
NG_021427.1:g.6132G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.1132G>A MANE Select | ENSP00000332809.4:p.Glu378Lys | |
ENST00000331664.5:c.1132G>A | ENSP00000332809.4:p.Glu378Lys | |
NM_001029883.2:c.1132G>A | NP_001025054.1:p.Glu378Lys | |
XM_011532826.1:c.1132G>A | XP_011531128.1:p.Glu378Lys | |
XR_939901.1:n.185+3963C>T | ||
XR_939902.1:n.173+3975C>T | ||
NM_001029883.3:c.1132G>A MANE Select | NP_001025054.1:p.Glu378Lys |