HGVS | Genome Assembly |
---|---|
NC_000006.12:g.1613176G>A , CM000668.2:g.1613176G>A | GRCh38 |
NC_000006.11:g.1613411G>A , CM000668.1:g.1613411G>A | GRCh37 |
NC_000006.10:g.1558410G>A | NCBI36 |
NG_009368.1:g.7731G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645831.2:c.*1069G>A MANE Select | ENSP00000493906.1:n.*1069G>A | |
ENST00000380874.3:c.*1069G>A | ENSP00000370256.2:n.*1069G>A | |
NM_001453.2:c.2731G>A | NP_001444.2:n.2731G>A | |
NM_001453.3:c.*1069G>A MANE Select | NP_001444.2:n.*1069G>A |