HGVS | Genome Assembly |
---|---|
NC_000006.12:g.1613182C>A , CM000668.2:g.1613182C>A | GRCh38 |
NC_000006.11:g.1613417C>A , CM000668.1:g.1613417C>A | GRCh37 |
NC_000006.10:g.1558416C>A | NCBI36 |
NG_009368.1:g.7737C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645831.2:c.*1075C>A MANE Select | ENSP00000493906.1:n.*1075C>A | |
ENST00000380874.3:c.*1075C>A | ENSP00000370256.2:n.*1075C>A | |
NM_001453.2:c.2737C>A | NP_001444.2:n.2737C>A | |
NM_001453.3:c.*1075C>A MANE Select | NP_001444.2:n.*1075C>A |