HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071281G>T , CM000664.2:g.29071281G>T | GRCh38 |
NC_000002.11:g.29294147G>T , CM000664.1:g.29294147G>T | GRCh37 |
NC_000002.10:g.29147651G>T | NCBI36 |
NG_021427.1:g.7981C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331664.6:c.2981C>A MANE Select | ENSP00000332809.4:p.Ala994Asp | |
ENST00000331664.5:c.2981C>A | ENSP00000332809.4:p.Ala994Asp | |
NM_001029883.2:c.2981C>A | NP_001025054.1:p.Ala994Asp | |
XM_011532826.1:c.2981C>A | XP_011531128.1:p.Ala994Asp | |
XR_939901.1:n.185+2114G>T | ||
XR_939902.1:n.173+2126G>T | ||
NM_001029883.3:c.2981C>A MANE Select | NP_001025054.1:p.Ala994Asp |