HGVS | Genome Assembly |
---|---|
NC_000002.12:g.46386576C>A , CM000664.2:g.46386576C>A | GRCh38 |
NC_000002.11:g.46613715C>A , CM000664.1:g.46613715C>A | GRCh37 |
NC_000002.10:g.46467219C>A | NCBI36 |
NG_016000.1:g.94175C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263734.5:c.*1916C>A MANE Select | ENSP00000263734.3:n.*1916C>A | |
ENST00000263734.4:c.*1916C>A | ENSP00000263734.3:n.*1916C>A | |
ENST00000466465.5:n.3502C>A | ||
NM_001430.4:c.*1916C>A | NP_001421.2:n.*1916C>A | |
XM_011532698.1:c.*1916C>A | XP_011531000.1:n.*1916C>A | |
XM_011532698.2:c.*1916C>A | XP_011531000.1:n.*1916C>A | |
NM_001430.5:c.*1916C>A MANE Select | NP_001421.2:n.*1916C>A |